Pubblicazioni scientifiche

TitoloAutoriTestataDOI
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers Scaffei Elena, Mazziotti Raffaele Mario, Conti E, Costanzo Valeria, CALDERONI SARA, Stoccoro A, Carmassi C, TANCREDI RAFFAELLA, Baroncelli Laura, BATTINI ROBERTA Brain Sciences 10.3390/brainsci13060951
A randomized controlled trial into the effects of probiotics on electroencephalography in preschoolers with autism Billeci, L., Callara, A.L., Guiducci, L., Prosperi, M., Morales, M.A., CALDERONI SARA, Muratori Pietro, Santocchi, E. AUTISM 10.1177/13623613221082710
Actigraphic and self-reported characterization of sleep in systemic lupus erythematosus patients Faraguna Ugo, Porciani, C, Colitta, A, Bruno, S, Frumento, P, Stagnaro, C, Tani, C, Vagelli, R, Mosca, M RHEUMATOLOGY 10.1093/rheumatology/kead344
Association between Contextual Factors and Affordances in the Home Environment of Infants Exposed to Poverty Fioroni Ribeiro da Silva C., Greco A.L.R., Castilho Cabrera Santos D., Sgandurra Giuseppina, Tudella E. Children-Basel 10.3390/children10121932
Associations between post-traumatic stress symptoms and sleep/circadian parameters: Exploring the effect of chronotype as a moderator variable Cruz Sanabria Francy Jurany, Bruno, S., Bazzani, A., Bonelli, C., Violi, M., Frumento, P., Faraguna Ugo CHRONOBIOLOGY INTERNATIONAL 10.1080/07420528.2023.2189952
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants Panza N., Bianchini C., Cetica V., Balestrini S., Barba C., ferrari anna rita, Mei D., Parmeggiani L., Parrini E., Guerrini R. Epilepsia Open 10.1002/epi4.12843
Botulinum toxin type A for spasticity in cerebral palsy patients: Which impact on popliteal angle to hamstring length? A proof-of-concept study Murgia M., de Sire A., Ruiu P., Agostini F., Bai Arianna Valeria, Pintabona G., Paolucci T., Bemporad J., Paoloni M., Bernetti A. JOURNAL OF BACK AND MUSCULOSKELETAL REHABILITATION 10.3233/BMR-220381
Brain histone beta-hydroxybutyrylation couples metabolism with gene expression Cornuti, S., Chen, S., Lupori, L., Finamore, F., Carli, F., Samad, M., Fenizia, S., Caldarelli, M., Damiani, F., Raimondi, F., Mazziotti Raffaele Mario, Magnan, C., Rocchiccioli, S., Gastaldelli, A., Baldi, P., Tognini, P. CELLULAR AND MOLECULAR LIFE SCIENCES 10.1007/s00018-022-04673-9
Call to action: an open-source pipeline for standardized performance evaluation of sleep-tracking technology Benedetti, D., Menghini, L., Vallat, R., Mallett, R., Kiss, O., Faraguna Ugo, Baker, F.C., de Zambotti, M. SLEEP 10.1093/sleep/zsac304
Case report: Episodic ataxia without ataxia? Gaudio A., Gotta F., Ponti C., Sanguineri F., Trevisan L., Geroldi A., Patrone S., Gemelli C., Cabona C., ASTREA GUJA, Fiorillo C., Gustincich S., Grandis M., Mandich P. Frontiers in Neurology 10.3389/fneur.2023.1224241
Case report: Preemptive intervention for an infant with early signs of autism spectrum disorder during the first year of life COLOMBI COSTANZA, Chericoni Natasha, Bargagna Stefania, Costanzo Valeria, Devescovi, R., Lecciso, F., Pierotti, C., Prosperi, M., Contaldo Annarita Frontiers in Psychiatry 10.3389/fpsyt.2023.1105253
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency Ghirardini, E., Sagona Giulia, Marquez-Galera, A., Calugi, F., Navarron, C.M., Cacciante, F., Chen, S., Di Vetta, F., Dadà, L., Mazziotti Raffaele Mario, Lupori, L., Putignano, E., Baldi, P., Lopez-Atalaya, J.P., Pizzorusso, T., Baroncelli Laura Acta Neuropathologica Communications 10.1186/s40478-023-01533-w
Chronotype is differentially associated with lifetime mood and panic-agoraphobic spectrum symptoms in patients with bipolar disorder and healthy controls Cruz Sanabria Francy Jurany, Violi, M., Bazzani, A., Bruno, S., Massoni, L., Bertelloni, C.A., Dell'Oste, V., Frumento, P., Faraguna Ugo, Dell'Osso, L., Carmassi, C. CNS SPECTRUMS 10.1017/S1092852923001207
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome Dragoni, F., Garau, J., Orcesi, S., Varesio, C., Bordoni, M., Scarian, E., Di Gerlando, R., Fazzi, E., BATTINI ROBERTA, Gjurgjaj, A., Rizzo, B., Pansarasa, O., Gagliardi, S. Frontiers in Endocrinology 10.3389/fendo.2023.1152237
Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral Palsy Claassen, D.O., Riordan, H.R., Dure, L.S., BATTINI ROBERTA, Cortez, A., Gordon, M.F., O'Connor, M., Jackson, K., Foster, A., Kosinski, M. PEDIATRIC NEUROLOGY 10.1016/j.pediatrneurol.2022.12.005
Crosslinked Chitosan Nanoparticles with Muco-Adhesive Potential for Intranasal Delivery Applications Gagliardi, M., Chiarugi, S., De Cesari, C., Di Gregorio, G., Diodati, A., Baroncelli Laura, Cecchini, M., Tonazzini, I. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24076590
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso F., Caraffi S.G., Contrò G., Valeri L., Napoli M., Carboni G., Seth A., Zuntini R., Coccia E., ASTREA GUJA, Bisgaard A.-M., Ivanovski I., Maitz S., Brischoux-Boucher E., Carter M.T., Dentici M.L., Devriendt K., Bellini M., Digilio M.C., Doja A., Dyment D.A., Farholt S., Ferreira C.R., Wolfe L.A., Gahl W.A., Gnazzo M., Goel H., Grønborg S.W., Hammer T., Iughetti L., Kleefstra T., Koolen D.A., Lepri F.R., Lemire G., Louro P., Mccullagh G., Madeo S.F., Milone Annarita, Milone R., Nielsen J.E.K., Novelli A., Ockeloen C.W., Pascarella R., Pippucci T., RICCA IVANA, Robertson S.P., Sawyer S., Falkenberg Smeland M., Stegmann S., Stumpel C.T., Goel A., Taylor J.M., Barbuti D., Soresina A., Bedeschi M.F., BATTINI ROBERTA, Cavalli A., Fusco C., Iascone M., Van Maldergem L., Venkateswaran S., Zuffardi O., Vergano S., Garavelli L., Bayat A. JOURNAL OF MEDICAL GENETICS 10.1136/jmg-2023-109141
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency Mabondzo, A., Harati, R., Broca-Brisson, L., Guyot, A.-C., Costa, N., Cacciante, F., Putignano, E., Baroncelli Laura, Skelton, M.R., Saab, C., Martini, E., Benech, H., Joudinaud, T., Gaillard, J.-C., Armengaud, J., Hamoudi, R. Frontiers in Molecular Neuroscience 10.3389/fnmol.2023.1118707
Early detection of developmental delay in infants born very preterm or with very low birthweight Caesar, R.A., Boyd, R.N., cioni giovanni, Ware, R.S., Doherty, J., Jackson, M.P., Salthouse, K.L., Colditz, P.B., Gee, K., Creen, J., De Vaney, M., Van de Bund, L., Bengtsson, K., Fitzpatrick, L., Hurley, T., Weber, L., Camadoo, L., Morosini, A., Thomas, C., Baer, E. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.15381
Editorial: Women in psychiatry 2022: autism Barone, Rita, COLOMBI COSTANZA Frontiers in Psychiatry 10.3389/fpsyt.2023.1208163
Effectiveness of the home-based training program tele-upcat (tele-monitored upper limb children action observation training) in unilateral cerebral palsy: a randomized controlled trial Beani Elena, MENICI VALENTINA, Sicola E., ferrari anna rita, Feys H., Klingels K., Mailleux L., Boyd R., cioni giovanni, Sgandurra Giuseppina European Journal of Physical and Rehabilitation Medicine 10.23736/s1973-9087.23.07945-5
Effects of a short period of postural training on postural stability and vestibulospinal reflexes Grasso C, Barresi M, Tramonti Fantozzi MP, Lazzerini F, Bruschini L, Berrettini S, Andre P, Dolciotti C, De Cicco V, De Cicco D, d'Ascanio P, Orsini P, Montanari F, Faraguna Ugo, Manzoni D. PLoS One 10.1371/journal.pone.0287123
Effects of exogenous melatonin on sleep and circadian rhythm parameters in bipolar disorder with comorbid delayed sleep-wake phase disorder: An actigraphic study Cruz Sanabria Francy Jurany, Faraguna Ugo, Violi M., Bruno S., Gravina D., Bonelli C., Bazzani A., Massoni L., Musetti L., Simoncini M., Frumento P., Dell'Osso L., Carmassi C. JOURNAL OF PSYCHIATRIC RESEARCH 10.1016/j.jpsychires.2023.07.008
Evidence-based management and motor rehabilitation of cerebral palsy children and adolescents: a systematic review Faccioli, Silvia, Pagliano, Emanuela, Ferrari, Adriano, Maghini, Cristina, Siani, Maria F., Sgherri Giada, Cappetta, Gina, Borelli, Giulia, Farella, Giuseppina M., Foscan, Maria, Vigano, Marta, Sghedoni, Silvia, Perazza, Silvia, Sassi, Silvia Frontiers in Neurology 10.3389/fneur.2023.1171224
Expanding the natural history of CASK-related disorders to the prenatal period Gafner, M., Boltshauser, E., D'Abrusco, F., BATTINI ROBERTA, Romaniello, R., D'Arrigo, S., Zanni, G., Leibovitz, Z., Yosovich, K., Lerman-Sagie, T., Buchignani Bianca, Gindes, L., Lev, D., Shariv, A., Schreiber, L., Ciaccio, C., Cerovac, N., Brankovic, V., Valente Elena, BATTINI ROBERTA, Nicita, F. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.15419
Exploratory Study on the Associations between Lifetime Post-Traumatic Stress Spectrum, Sleep, and Circadian Rhythm Parameters in Patients with Bipolar Disorder Carmassi, C., Cruz Sanabria Francy Jurany, Gravina, D., Violi, M., Bonelli, C., Dell¿Oste, V., Pedrinelli, V., Frumento, P., Faraguna Ugo, Dell¿Osso, L. 10.3390/ijerph20043566
Expression of miRNAs in Pre-Schoolers with Autism Spectrum Disorders Compared with Typically Developing Peers and Its Effects after Probiotic Supplementation Guiducci L., Cabiati M., Santocchi E., Prosperi M., Morales M.A., Muratori Pietro, Randazzo E., Federico G., CALDERONI SARA, Del Ry S. Journal of Clinical Medicine 10.3390/jcm12227162
Far Transfer Effects of Trainings on Executive Functions in Neurodevelopmental Disorders: A Systematic Review and Metanalysis Bombonato Clara, Del Lucchese Benedetta, Ruffini, C., Di Lieto Maria Chiara, BROVEDANI PAOLA, Sgandurra Giuseppina, cioni giovanni, Pecini, C. NEUROPSYCHOLOGY REVIEW 10.1007/s11065-022-09574-z
Further characterization of NFIB-associated phenotypes: Report of two new individuals Marinella Gemma, Conti, E., Buchignani Bianca, Sgherri Giada, Pasquariello Rosa, Giordano, F., cristofani paola, BATTINI ROBERTA, Battaglia Agatino AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.63018
Handling shifts during an overnight sailing regatta: Comparison between sleep management strategies Bruno, S., Ceccanti, S., Bazzani, A., d'Ascanio, P., Frumento, P., Faraguna Ugo SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS 10.1111/sms.14273
Harnessing neuroplasticity to improve motor performance in infants with cerebral palsy: A study protocol for the GAME randomised controlled trial Morgan, C., Badawi, N., Boyd, R.N., Spittle, A.J., Dale, R.C., Kirby, A., Hunt, R.W., Whittingham, K., Pannek, K., Morton, R.L., Tarnow-Mordi, W., Fahey, M.C., Walker, K., Prelog, K., Elliott, C., Valentine, J., Guzzetta Andrea, Olivey, S., Novak, I. BMJ Open 10.1136/bmjopen-2022-070649
Insights on action observation and imitation abilities in children with Developmental Coordination Disorder and typically developing children BIEBER ELEONORA, Smits-Engelsman BCM, Sgandurra Giuseppina, Martini Giada, Guzzetta Andrea, cioni giovanni, Feys H, Klingels K. RESEARCH IN DEVELOPMENTAL DISABILITIES 10.1016/j.ridd.2023.104556
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? Pane M, Coratti G, Brogna C, Bovis F, D'Amico A, Pegoraro E, Bello L, Sansone V, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Catteruccia M, Cicala G, Ricci M, Frosini Silvia, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Gardani A, Pini A, Monaco G, D'Angelo MG, Capasso A, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci Federica, Berardinelli A, BATTINI ROBERTA, Masson R, Baranello G, Dosi C, Bertini E, Politano L, Mercuri E. Journal of Neuromuscular Diseases 10.3233/JND-221556
Lung ultrasound supports clinical evaluation of feeding competence development in preterm neonates Controzzi T., Chesi F., Scaramuzzo R.T., Giampietri M., Morganti R., FIORI SIMONA, Moretti Elena, Gardini S, Filippi L. Frontiers in Pediatrics 10.3389/fped.2023.1222473
Melatonin as a Chronobiotic with Sleep-promoting Properties Cruz Sanabria Francy Jurany, Carmassi, C., Bruno, S., Bazzani, A., Carli, M., Scarselli, M., Faraguna Ugo Current Neuropharmacology 10.2174/1570159X20666220217152617
Morning naps architecture and mentation recall complexity Sebastiani, L., Barcaro, U., Paradisi, P., Frumento, P., Faraguna Ugo JOURNAL OF SLEEP RESEARCH 10.1111/jsr.13915
Neonatal hypoxic-ischemic encephalopathy after acute carbon monoxide intoxication during pregnancy. A case report and brief review of the literature Tuoni C., Nuzzi G., Scaramuzzo R.T., FIORI SIMONA, Filippi L. Frontiers in Pediatrics 10.3389/fped.2023.1264855
Performance evaluation of the open-source Yet Another Spindle Algorithm sleep staging algorithm against gold standard manual evaluation of polysomnographic records in adolescence Benedetti D., Frati E., Kiss O., Yuksel D., Faraguna Ugo, Hasler B.P., Franzen P.L., Clark D.B., Baker F.C., de Zambotti M. Sleep Health 10.1016/j.sleh.2023.07.019
Pointing in cervical dystonia patients Tramonti Fantozzi M.P., Benedetti R., Crecchi A., Briscese L., Andre P., Arrighi P., Bonfiglio L., Carboncini M.C., Bruschini L., Bongioanni P., Faraguna Ugo, Manzoni D. Frontiers in Systems Neuroscience 10.3389/fnsys.2023.1306387
Predicting motor and cognitive outcomes from MRIs of brain structure in children with acquired brain injury: A pilot study Pagnozzi, A.M., Pannek, K., Fripp, J., FIORI SIMONA, Boyd, R.N., Rose, S. Pediatrics and Neonatology 10.1016/j.pedneo.2022.07.014
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment? Buchignani Bianca, Cicala, G., Moriconi, F., Ricci Federica, Capasso, A., Coratti, G., Casiraghi, J., Albamonte, E., cristofani paola, Cutrona, C., Pera, M.C., Antonaci, L., Roncoroni, C., Chieffo, D., Sansone, V.A., BATTINI ROBERTA, Pane, M., Mercuri, E. NEUROMUSCULAR DISORDERS 10.1016/j.nmd.2023.08.005
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome Serpieri, V., Mortarini, G., Loucks, H., Biagini, T., Micalizzi, A., Palmieri, I., Dempsey, J.C., D'Abrusco, F., Mazzotta, C., BATTINI ROBERTA, Bertini, E.S., Boltshauser, E., Borgatti, R., Brockmann, K., D'Arrigo, S., Nardocci, N., Fischetto, R., Agolini, E., Novelli, A., Romano, A., Romaniello, R., Stanzial, F., Signorini S, Strisciuglio, P., Gana, S., Mazza, T., Doherty, D., Valente EM JOURNAL OF MEDICAL GENETICS 10.1136/jmg-2022-108725
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome Fiorentini, E., Giunti, L., Di Rita, A., Peraio, S., Fonte, C., Caporalini, C., Buccoliero, A.M., Censullo, M.L., Gori, G., Noris, A., Pasquariello Rosa, BATTINI ROBERTA, Pavone, R., Giordano, F., Giglio, S., Rinaldi, B. European Journal of Medical Genetics 10.1016/j.ejmg.2023.104784
School Attendance, Chronotype, and Day-of-the-Week Effect in Adolescent Male Basketball Players Bruno, S., Benedetti, D., Bazzani, A., Ferri, F., Granieri, I., Cruz Sanabria Francy Jurany, FIORI SIMONA, d¿Ascanio, P., Frumento, P., Faraguna Ugo JOURNAL OF BIOLOGICAL RHYTHMS 10.1177/07487304221144340
Seizures in trisomy 18: Prevalence, description, and treatment Jaspersen, S.L., Bruns, D.A., Candee, M.S., Battaglia Agatino, Carey, J.C., Fishler, K.P. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.63113
Sensitivity and Specificity of the Brentano Illusion Test in the Detection of Visual Hemi-Field Deficits in Patients with Unilateral Spatial Neglect De Luca M, Baroncini Matteo, Matano A, Di Lorenzo C, Magnotti L, Lucatello S, Mulas M, Pollarini V, Ciurli MP, Nardo D. Brain Sciences 10.3390/brainsci13060937
Sex differences in early language delay and in developmental language disorder chilosi anna, BROVEDANI PAOLA, Cipriani P., Casalini Claudia JOURNAL OF NEUROSCIENCE RESEARCH 10.1186/s12887-022-03819-9
Sex influences on the neurocognitive outcome of preterm children Taddei M, TINELLI FRANCESCA, Faccio F, Riva D, Bulgheroni S. JOURNAL OF NEUROSCIENCE RESEARCH 10.1002/jnr.24862
Short-Term Outcomes of an ESDM Intervention in Italian Children with Autism Spectrum Disorder following the COVID-19 Lockdown Devescovi, R., Bresciani, G., Colonna, V., Carrozzi, M., Dissegna, A., Celea, M.A., Cescon, D., Frisari, S., Guerrieri, M., Placer, F., Stocchi, M., Terpini, C., COLOMBI COSTANZA Children-Basel 10.3390/children10040691
Sleep disturbances in specific learning disorders: a qualitative and quantitative investigation Pecini C., Giuntoli I., Spoglianti S., Di Lieto Maria Chiara, Inguaggiato Emanuela, Gasperini Filippo, cristofani paola, Brizzolara D., chilosi anna, Faraguna Ugo, Banfi T. Minerva Pediatrics 10.23736/S2724-5276.20.05505-X
Specific Learning Disabilities and Emotional-Behavioral Difficulties: Phenotypes and Role of the Cognitive Profile cristofani paola, Di Lieto Maria Chiara, Casalini Claudia, Pecini, C., Baroncini Matteo, Pessina, O., Gasperini Filippo, Dasso Lang, M.B., Bartoli, M., chilosi anna, Milone Annarita Journal of Clinical Medicine 10.3390/jcm12051882
Stabilized Reversed Polymeric Micelles as Nanovector for Hydrophilic Compounds Gagliardi, M., Vincenzi, A., Baroncelli Laura, Cecchini, M. Polymers 10.3390/polym15040946
TeleFE: A New Tool for the Tele-Assessment of Executive Functions in Children Rivella, C., Ruffini, C., Bombonato Clara, Capodieci, A., Frascari, A., Marzocchi, G.M., Mingozzi, A., Pecini, C., Traverso, L., Usai, M.C., Viterbori, P. Applied Sciences-Basel 10.3390/app13031728
The Central Noradrenergic System in Neurodevelopmental Disorders: Merging Experimental and Clinical Evidence Galgani, A., BARTOLINI EMANUELE, D¿Amora, M., Faraguna Ugo, Giorgi, F.S. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24065805
The photoparoxysmal response belongs to the spectrum of electroencephalographic findings in patients with triple X syndrome and epilepsy BARTOLINI EMANUELE, baldini lavinia, Casolaro Francesca, Perruzza Antonella, pieri rossella, ferrari anna rita SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 10.1016/j.seizure.2023.06.019
The teleNIDA: Early Screening of Autism Spectrum Disorder Through a Novel Telehealth Approach Riva, V., Villa, L., Fulceri, F., Arduino, G.M., Leonti, G., Valeri, G., Casula, L., Zoccante, L., Puttini, E., Sogos, C., Presicce, M., Bentenuto, A., APICELLA FABIO, Molteni, M., Scattoni, M.L. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 10.1007/s10803-023-05927-6
Trigeminal Stimulation and Visuospatial Performance: The Struggle between Chewing and Trigeminal Asymmetries Tramonti Fantozzi M.P., De Cicco V., d¿Ascanio P., Cataldo E., De Cicco D., Bruschini L., Barresi M., Faraguna Ugo, Manzoni D. Biomedicines 10.3390/biomedicines11082307
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study Brogna, C., Pane, M., Coratti, G., D¿Amico, A., Pegoraro, E., Bello, L., Sansone, V.A.M., Albamonte, E., Messina, S., Pini, A., D¿Angelo, M.G., Bruno, C., Mongini, T., Ricci Federica, Berardinelli, A., BATTINI ROBERTA, Masson, R., Bertini, E.S., Politano, L., Mercuri, E. Children-Basel 10.3390/children10040746
Visual impairment and periventricular leukomalacia in children: A systematic review Petri Stefania, TINELLI FRANCESCA RESEARCH IN DEVELOPMENTAL DISABILITIES 10.1016/j.ridd.2023.104439
Visual neglect: does it exist in children with unilateral brain lesion? A systematic review Purpura G., Guzzetta Andrea, TINELLI FRANCESCA NEUROPSYCHOLOGICAL REHABILITATION 10.1080/09602011.2022.2032762
Wearable accelerometers for measuring and monitoring the motor behaviour of infants with brain damage during CareToy-Revised training Franchi Dé Cavalieri Mattia, Filogna Silvia, Martini Giada, Beani Elena, Maselli, M., Cianchetti, M., Dubbini, N., cioni giovanni, Sgandurra Giuseppina, The CareToy-R Consortium, Artese, C., Barzacchi Veronica, Cecchi, A., Cervo, M., Cioni, M.L., Dani, C., Dario, P., Di Galante, M., Faraguna Ugo, Fiorini, P., Fortini, V., Giampietri, M., Giustini, S., Lunardi, C., Mannari, I., MENICI VALENTINA, Gardini S, Paternoster, F., Rizzi R Journal of NeuroEngineering and Rehabilitation 10.1186/s12984-023-01182-z
White matter microstructure and receptive vocabulary in children with cerebral palsy: The role of interhemispheric connectivity Laporta-Hoyos, O., Pannek, K., Pagnozzi, A.M., FIORI SIMONA, Boyd, R.N. PLoS One 10.1371/journal.pone.0280055
mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder Gurgone A., Pizzo R, Raspanti A., Chiantia G., Devi S., Comai D., Morello N., Pilotto F., Gnavi S., Lupori L., Mazziotti Raffaele Mario, Sagona Giulia, Putignano E., Nocentini A., Supuran C.T., Marcantoni A., Pizzorusso T., Giustetto M. NEUROPSYCHOPHARMACOLOGY 10.1038/s41386-022-01412-3
Adolescent schizophrenia: state of the art and proposals to improve transition management in Italy [Schizo Bellomo A., Masi Gabriele, Vita A., Zuddas A. Rivista di Psichiatria 10.1708/4056.40381
Advances in Autism Research: Series II Narzisi Antonio Brain Sciences 10.3390/brainsci13020332
Association between relative age at school and persistence of ADHD in prospective studies: an individual participant data meta-analysis Synergy for the Influence of the Month of Birth in ADHD (SIMBA) study group, Gosling, C.J., Caparos, S., Pinabiaux, C., Schwarzer, G., Rücker, G., Masi Gabriele, Halperin, J.M., Muratori Pietro, Solmi, M., Delorme, R., et al, Cortese, S. Lancet Psychiatry 10.1016/S2215-0366(23)00272-9
Autism and Children: Diagnosis, Functional Profiles and Intervention Narzisi Antonio, Alonso-Esteban, Y., Alcantud-Marín, F. Children-Basel 10.3390/children10030522
Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications Narzisi Antonio, Alcantud-Marin, F., Alonso-Esteban, Y., BATTINI ROBERTA, Cantiani, C., Conti, E., Fusar-Poli, L., Lecciso, F., Levante, A., Mazzone, L., Milone Annarita, Riva, V., Siracusano, M., Aguglia, E. Brain Sciences 10.3390/brainsci13020269
Bodily self-recognition and body size overestimation in restrictive anorexia nervosa: implicit and explicit mechanisms Ambrosecchia, M, Ardizzi, M, Russo, EC, Ditaranto Francesca, Speciale, M, Vinai, P, Todisco, P, Maestro Sandra, Gallese, V Frontiers in Psychology 10.3389/fpsyg.2023.1197319
CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions Vibert, B., Segura, P., Gallagher, L., Georgiades, S., Pervanidou, P., Thurm, A., Alexander, L., Anagnostou, E., Aoki, Y., Birken, C.S., Bishop, S.L., Boi, J., Bravaccio, C., Brentani, H., Canevini, P., Carta, A., Charach, A., Costantino, A., Cost, K.T., Cravo, E.A., Crosbie, J., Davico, C., Donno, F., Fujino, J., Gabellone, A., Geyer, C.T., Hirota, T., Kanne, S., Kawashima, M., Kelley, E., Kim, H., Kim, Y.S., Kim, S.H., Korczak, D.J., Lai, M.-C., Margari, L., Marzulli, L., Masi Gabriele, Mazzone, L., McGrath, J., Monga, S., Morosini, P., Nakajima, S., Narzisi Antonio, Nicolson, R., Nikolaidis, A., Noda, Y., Nowell, K., Polizzi, M., Portolese, J., Riccio, M.P., Saito, M., Schwartz, I., Simhal, A.K., Siracusano, M., Sotgiu, S., Stroud, J., Sumiya, F., Tachibana, Y., Takahashi, N., Takahashi, R., Tamon, H., TANCREDI RAFFAELLA, Vitiello, B., Zuddas, A., Leventhal, B., Merikangas, K., Milham, M.P., Di Martino, A. Molecular Autism 10.1186/s13229-022-00536-z
Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs Perini, S., Filosi, M., Allibrio, G., Basadonne, I., Benvenuto, A., Buono, S., Bravaccio, C., Casonato, C., Ceppi, E., Curatolo, P., Bernardina, B.D., Da Ros, L., Darra, F., Eusebi, A., Gabellone, A., De Giacomo, A., Distefano, G., Donno, F., Elia, M., Fazzi, E., Gatta, M., Giusto, S., Grittani, S., Lanzarini, E., Malerba, G., Mani, E., Manzi, B., Margari, L., Marzulli, L., Masi Gabriele, Mattei, P., Mazzone, L., Molteni, M., Muglia, P., Musumeci, S., Narzisi Antonio, Pascotto, A., Pari, C., Parmeggiani, A., Petruzzelli, M.G., Raffagnato, A., Ratti, E., Rossaro, M.P., Riccio, M.P., Rizzini, P., Scifo, R., Siracusano, M., TANCREDI RAFFAELLA, Tiberti, A., Trabetti, E., Traverso, A., Venuti, P., Zoccante, L., Zuddas, A., Domenici, E. Translational Psychiatry 10.1038/s41398-023-02407-4
Comorbidities in Youth with Bipolar Disorder: Clinical Features and Pharmacological Management Sesso Gianluca, Brancati, G.E., Masi Gabriele Current Neuropharmacology 10.2174/1570159X20666220706104117
Conduct disorder in female adolescents: evidence from the FemNAT-CD Project Santaguida, E, Paparatto, G, Masi Gabriele, Milone Annarita, Tolomei Greta, Muratori Pietro Rivista di Psichiatria 10.1708/4064.40480
Contemporary diagnosis and treatment of conduct disorder in youth Masi Gabriele, Carucci S., Muratori Pietro, Balia C., Sesso Gianluca, Milone Annarita Expert Review of Neurotherapeutics 10.1080/14737175.2023.2271169
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review Stoccoro, Andrea, Conti, Eugenia, Scaffei Elena, CALDERONI SARA, Coppede, Fabio, Migliore, Lucia, BATTINI ROBERTA INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24119138
Editorial: Women in psychiatry 2022: child and adolescent psychiatry CALDERONI SARA Frontiers in Psychiatry 10.3389/fpsyt.2023.1248107
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Neurodevelopmental Disorders, Schizophrenia Spectrum Disorders and Catatonia: The ¿Iron Triangle¿ Rediscovered in a Case Report Fantozzi Pamela, Del Grande, C., Berloffa Stefano, Tolomei Greta, Salluce, C., Narzisi Antonio, Salarpi, G., Capovani, B., Masi Gabriele Children-Basel 10.3390/children10010077
Neurodevelopmental disorders and autism: A possible integration between dimensional and categorical approaches [Disturbi del neurosviluppo e autismo: possibile integrazione tra approccio dimensionale e categoriale] muratori filippo, CALDERONI SARA Ricerche di Psicologia 10.3280/rip2022oa15717
PCSK9 and leptin plasma levels in anorexia nervosa Bigazzi, Federico, De Pasquale, Carlotta Francesca, Maestro Sandra, Corciulo, Carmen, Dal Pino, Beatrice, Sbrana, Francesco, Sampietro, Tiziana Hormones-International Journal of Endocrinology and Metabolism 10.1007/s42000-023-00504-z
Persistent Non-Suicidal Self-Injury and Suicidality in Referred Adolescents: A Longitudinal Study Exploring the Role of Cyclothymic Temperament Masi Gabriele, Pisano, S., Sesso Gianluca, Mazzullo, C., Berloffa Stefano, Fantozzi Pamela, Narzisi Antonio, Placini, F., Valente Elena, Viglione Valentina, Milone Annarita Brain Sciences 10.3390/brainsci13050755
Pharmacological strategies for the management of the antisocial personality disorder Sesso Gianluca, Masi Gabriele Expert Review of Clinical Pharmacology 10.1080/17512433.2023.2181159
Psychopathic Traits, Externalizing Problems, and Prosocial Behavior: The Role of Social Dominance Orientation Grossi, G., Strappini, F., Iuliano, E., Passiatore, Y., Mancini, F., Levantini, V., Masi Gabriele, Milone Annarita, Santaguida, E., Salekin, R.T., Muratori Pietro, Buonanno, C. Journal of Clinical Medicine 10.3390/jcm12103521
Sex/Gender Differences in the Language Profiles of Italian Children with Autism Spectrum Disorder: A Retrospective Study Barsotti Jessica, MANGANI GLORIA, Nencioli R., Narzisi Antonio, Pfanner Lucia, chilosi anna, Cipriano Emilio, Mancini A., Cosenza Angela, TANCREDI RAFFAELLA, CALDERONI SARA Journal of Clinical Medicine 10.3390/jcm12154923
Sex/gender differences in children with autism spectrum disorder: A brief overview on epidemiology, symptom profile, and neuroanatomy CALDERONI SARA JOURNAL OF NEUROSCIENCE RESEARCH 10.1002/jnr.25000
Steroid treatment response to post SARS-CoV-2 PANS symptoms: Case series Berloffa Stefano, Salvati, A., Pantalone, G., Falcioni, L., Rizzi, M.M., Naldini, F., Masi Gabriele, Gagliano, A. Frontiers in Neurology 10.3389/fneur.2023.1085948
Tempering expectations: considerations on the current state of stem cells therapy for autism treatment Narzisi Antonio, Halladay A., Masi Gabriele, Novarino G., Lord C. Frontiers in Psychiatry 10.3389/fpsyt.2023.1287879
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder Cirnigliaro L., Valle M.S., Casabona A., Randazzo M., La Bruna F., Pettinato F., Narzisi Antonio, Baroni R, Rizzo R JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 10.1007/s10803-023-06184-3
The Role of Environmental Sensitivity in the Relationship Between Childhood Maltreatment and Self-Conscious Emotions of Shame and Guilt: A Brief Report Di Paola L., Nocentini A., Levantini V., Masi Gabriele, Milone Annarita, Muratori Pietro PSYCHOLOGICAL REPORTS 10.1177/00332941231223677
Working with adolescents through an intervention for parents: a pilot study on the implementation of the attachment-based econnect intervention program Barone L., Tracchegiani J., Benzi I.M.A., Carone N., Moretti Elena, Ruglioni Laura Psicologia Clinica dello Sviluppo 10.1449/108244
eCONNECT Parent Group: An Online Attachment-Based Intervention to Reduce Attachment Insecurity, Behavioral Problems, and Emotional Dysregulation in Adolescence Benzi, I.M.A., Carone, N., Moretti, M., Ruglioni Laura, Tracchegiani, J., Barone, L. 10.3390/ijerph20043532
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report Giannese, D., Montano, V., Lopriore, P., NESTI CLAUDIA, Logerfo, A., Caligo, M.A., DAL CANTO FLAVIO, Pasquinelli, G., Bonadio, A.G., Moriconi, D., Siciliano, G., Mancuso, M. Journal of Neuromuscular Diseases 10.3233/JND-221526
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism Scaravilli, A., Tranfa, M., Pontillo, G., Brais, B., De Michele, G., La Piana, R., Saccà, F., Santorelli Filippo Maria, Synofzik, M., Brunetti, A., Cocozza, S. CEREBELLUM 10.1007/s12311-023-01562-0
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report Caputo M., Martinelli Alice, Fini N., Gianferrari G., Simonini C., TROVATO ROSANNA, Santorelli Filippo Maria, Tessa Alessandra, Mandrioli J., Zucchi E. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms241512386
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A Torella A., RICCA IVANA, Piluso G., Galatolo Daniele, De Michele G., Zanobio M., TROVATO ROSANNA, De Michele G., Zeuli R., Pane C., Cocozza S., Saccà F., Santorelli Filippo Maria, Nigro V., Filla A. JOURNAL OF NEUROLOGY 10.1007/s00415-023-11816-w
A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene Parisi, M., Canosa, A., Tessa Alessandra, Ferrero, B., Gallone, S. NEUROLOGICAL SCIENCES 10.1007/s10072-022-06553-3
A registry for Dravet syndrome: The Italian experience Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia Agatino, Specchio, N., Ragona, F., Granata, T., Pellacani, S., ferrari anna rita, Martini Giada, Matricardi, S., Cesaroni, E., Giordano, L., Accorsi, P., Sciruicchio, V., Tinuper, P., Messana, T., Russo, A., Pruna, D., Nosadini, M., De Giorgis, V., Caputo, D., Pellegrin, S., Lo Barco, T., Darra, F., Dalla Bernardina, B., Guerrini, R. Epilepsia Open 10.1002/epi4.12730
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome NESTI CLAUDIA, Ticci, C., Rubegni Anna, DOCCINI STEFANO, Scaturro, G., Vetro, A., Guerrini, R., Santorelli Filippo Maria, Procopio, E. JOURNAL OF NEUROLOGY 10.1007/s00415-023-11673-7
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes De Michele, Giovanna, Maione, Luigi, Cocozza, Sirio, Tranfa, Mario, Pane, Chiara, Galatolo Daniele, De Rosa, Anna, De Michele, Giuseppe, Sacca, Francesco, Filla, Alessandro CEREBELLUM 10.1007/s12311-023-01549-x
Cannabidiol Mitigates Valproic Acid-Induced Developmental Toxicity and Locomotor Behavioral Impairment in Zebrafish Licitra Rosario, Damiani David, NAEF VALENTINA, Fronte, Baldassare, Della Vecchia Stefania, Sangiacomo, Chiara, Marchese Maria, Santorelli Filippo Maria JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS 10.23812/j.biol.regul.homeost.agents.20233709.480
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia Lyu H., Boßelmann C.M., Johannesen K.M., Koko M., Ortigoza-Escobar J.D., Aguilera-Albesa S., Garcia-Navas Núñez D., Linnankivi T., Gaily E., van Ruiten H.J.A., Richardson R., Betzler C., Horvath G., Brilstra E., Geerdink N., Orsucci D., Tessa Alessandra, Gardella E., Fleszar Z., Schöls L., Lerche H., Møller R.S., Liu Y. EBioMedicine 10.1016/j.ebiom.2023.104855
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes Monda, E., Lioncino, M., Caiazza, M., Simonelli, V., NESTI CLAUDIA, Rubino, M., Perna, A., Mauriello, A., Budillon, A., Pota, V., Bruno, G., Varone, A., Nigro, V., Santorelli Filippo Maria, Pacileo, G., Russo, M.G., Frisso, G., Sampaolo, S., Limongelli, G. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24109108
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies Lioncino M., Monda E., Caiazza M., Simonelli V., NESTI CLAUDIA, Mauriello A., Budillon A., Di Santo A., Bruno G., Varone A., Nigro V., Santorelli Filippo Maria, Pacileo G., Russo M.G., Frisso G., Sampaolo S., Limongelli G. Circulation-Genomic and Precision Medicine 10.1161/CIRCGEN.123.004122
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature Marinella Gemma, Orsini A., Scacciati M., Costa E., Santangelo A., ASTREA GUJA, Frosini Silvia, Pasquariello Rosa, Rubegni Anna, Sgherri Giada, Corsi M., Bonuccelli A., BATTINI ROBERTA Genes 10.3390/genes14071363
Converging Role for REEP1/SPG31 in Oxidative Stress NAEF VALENTINA, Meschini Maria Chiara, Tessa Alessandra, Morani, F., Corsinovi, D., Ogi Asahi, Marchese Maria, Ori, M., Santorelli Filippo Maria, DOCCINI STEFANO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24043527
Dietary Supplementation with a Blend of Hydrolyzable and Condensed Tannins Ameliorates Diet-Induced Intestinal Inflammation in Zebrafish (Danio rerio) Imperatore, Roberta, Fronte, Baldassare, Scicchitano, Daniel, Orso, Graziella, Marchese Maria, Mero Serena, Licitra Rosario, Coccia, Elena, Candela, Marco, Paolucci, Marina Animals 10.3390/ani13010167
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation Lopergolo D, Salvatore, S., Sorrentino, V., Malandrini A, Santorelli Filippo Maria, Battisti, C. NEUROLOGICAL SCIENCES 10.1007/s10072-023-06607-0
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue Politano, L., Santorelli Filippo Maria Genes 10.3390/genes14040926
Editorial: In vitro and in vivo models for neurodevelopmental disorders D'Amore A., Marchese Maria, Afshar-Saber W., Hameed M.Q. Frontiers in Neuroscience 10.3389/fnins.2023.1239577
Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain Pezzini, F., Fiorini, M., DOCCINI STEFANO, Santorelli Filippo Maria, Zanusso, G., Simonati, A. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 10.1016/j.bbadis.2023.166756
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech Formicola, D, Podda, I, Pantaleo, M, Andreucci, E, Lopergolo Diego, Giglio, S, Santorelli Filippo Maria, chilosi anna NEUROPEDIATRICS 10.1055/s-0043-1771033
Familial Alzheimer's disease associated with heterozygous NPC1 mutation Lopergolo D, Bianchi S., Gallus G.N., Locci S., Pucci B., Leoni V., Gasparini D., Tardelli E., Chincarini A., Sestini S., Santorelli Filippo Maria, Zetterberg H., De Stefano N., Mignarri A. JOURNAL OF MEDICAL GENETICS 10.1136/jmg-2023-109219
Hermetia illucens for Replacing Fishmeal in Aquafeeds: Effects on Fish Growth Performance, Intestinal Morphology, and Gene Expression in the Zebrafish (Danio rerio) Model Barca, A., Abramo, F., Nazerian, S., Coppola, F., Sangiacomo, C., Bibbiani, C., Licitra Rosario, Susini, F., Verri, T., Fronte, B. Fishes 10.3390/fishes8030127
Human-Dog-Relationship and its positive effects on dogs and their humans with special needs
Menor-Campos, D., Gazzano, A., Lezama-García, K., Ogi Asahi, Mota-Rojas, D. Journal of Animal Behaviour and Biometeorology 10.31893/jabb.23ss03
Inhibiting immunoregulatory amidase NAAA blocks ZIKV maturation in Human Neural Stem Cells Lai, Michele, La Rocca, Veronica , Iacono, Elena , Filipponi, Carolina, De Carli, Alessandro, Favaro, Domenico , Fonnesu, Rossella, Filippini, Fabio, Spezia, Pietro Giorgio , Amato, Rachele, Catelli, Elisa , Baggiani Matteo, Lottini, Giulia, Onorati, Marco, Clementi, Nicola, Freer, Giulia, Piomelli, Daniele, Pistello, Mauro ANTIVIRAL RESEARCH 10.1016/j.antiviral.2023.105664
Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses Gammaldi Nicola, Pezzini F., Michelucci E., Di Giorgi N., Simonati A., Rocchiccioli S., Santorelli Filippo Maria, DOCCINI STEFANO NEUROBIOLOGY OF DISEASE 10.1016/j.nbd.2023.106349
Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations Satolli Sara, Di Fonzo A, Zanobio M, Pezzullo G, De Micco R. NEUROLOGICAL SCIENCES 10.1007/s10072-023-06899-2
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts Zanfardino, P., Longo, G., Amati, A., Morani, F., Picardi, E., Girolamo, F., Pafundi, M., Cox, S.N., Manzari, C., Tullo, A., DOCCINI STEFANO, Santorelli Filippo Maria, Petruzzella, V. HUMAN MOLECULAR GENETICS 10.1093/hmg/ddac201
NEFL-RELATED CHARCOT-MARIE TOOTH DISEASE DUE TO P440L MUTATION IN TWO ITALIAN FAMILIES: EXPANDING THE PHENOTYPE AND DEFINING MODULATING FACTORS Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Frezza, Erika, Moro, Francesca, Massa, Roberto, Santorelli Filippo Maria EUROPEAN NEUROLOGY 10.1159/000529706
New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia Sardina, F., Valente, D., Fattorini, G., Cioffi, E., Zanna, G.D., Tessa Alessandra, Trisciuoglio, D., Soddu, S., Santorelli Filippo Maria, Casali, C., Rinaldo, C. EUROPEAN JOURNAL OF NEUROLOGY 10.1111/ene.15756
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae Caron-Godon C.A., Della Vecchia Stefania, Romano A., DOCCINI STEFANO, DAL CANTO FLAVIO, Pasquariello Rosa, Rubegni Anna, BATTINI ROBERTA, Santorelli Filippo Maria, Glerum D.M., NESTI CLAUDIA INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms242316636
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients Di Donfrancesco A., Berlingieri C., Giacomello M., Frascarelli C., Magalhaes Rebelo A.P., Bindoff L.A., Reeval S., Renbaum P., Santorelli Filippo Maria, Massaro G., Viscomi C., Zeviani M., Ghezzi D., Bottani E., Brunetti D. Frontiers in Pharmacology 10.3389/fphar.2023.1220620
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias Aloisio S., Satolli Sara, Bellini G., Lopriore P. NEUROLOGICAL SCIENCES 10.1007/s10072-023-07044-9
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia Alecu J.E., Saffari A., Ziegler M., Jordan C., Tam A., Kim S., Leung E., Szczaluba K., Mierzewska H., King S.D., Santorelli Filippo Maria, Yoon G., Trombetta B., Kivisäkk P., Zhang B., Sahin M., Ebrahimi-Fakhari D. MOVEMENT DISORDERS 10.1002/mds.29524
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice Galatolo Daniele, TROVATO ROSANNA, Scarlatti, A., Rossi, S., Natale Gemma, De Michele, G., Barghigiani Melissa, Cioffi, E., Filla, A., Bilancieri Giusi, Casali, C., Santorelli Filippo Maria, Silvestri, G., Tessa Alessandra NEUROGENETICS 10.1007/s10048-023-00717-9
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency Croci, C., Cataldi, M., Baratto, S., Bruno, C., Trucco, F., DOCCINI STEFANO, Romano, A., NESTI CLAUDIA, Santorelli Filippo Maria, Fiorillo, C. NEUROPEDIATRICS 10.1055/a-2018-4845
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia Vantaggiato, C., Orso, G., Guarato, G., Brivio, F., Napoli, B., Panzeri, E., Masotti, S., Santorelli Filippo Maria, Lamprou, M., Gumeni, S., Clementi, E., Bassi, M.T. BRAIN 10.1093/brain/awac308
Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review Leccese D., Rodolico G.R., Sperti M., CASSANDRINI DENISE ALESSANDRA, BARTOLINI EMANUELE, Ingannato A., Nacmias B., Bracco L., Malandrini A., Santorelli Filippo Maria, Bessi V., Matà S. CLINICAL NEUROLOGY AND NEUROSURGERY 10.1016/j.clineuro.2023.107875
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression Licitra Rosario, NAEF VALENTINA, Marchese Maria, Damiani David, Ogi Asahi, DOCCINI STEFANO, Fronte, B., Yan, J., Santorelli Filippo Maria INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24065456
Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS Adipocytes Carpi S., Quarta S., DOCCINI STEFANO, Saviano A., Marigliano N., Polini B., Massaro M., Carluccio M.A., Calabriso N., Wabitsch M., Santorelli Filippo Maria, Cecchini M., Maione F., Nieri P., Scoditti E. Biomolecules 10.3390/biom13071029
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 Saffari, A., Kellner, M., Jordan, C., Rosengarten, H., Mo, A., Zhang, B., Strelko, O., Neuser, S., Davis, M.Y., Yoshikura, N., Futamura, N., Takeuchi, T., Nabatame, S., Ishiura, H., Tsuji, S., Aldeen, H.S., Cali, E., Rocca, C., Houlden, H., Efthymiou, S., Assmann, B., Yoon, G., Trombetta, B.A., Kivisäkk, P., Eichler, F., Nan, H., Takiyama, Y., Tessa Alessandra, Santorelli Filippo Maria, Sahin, M., Blackstone, C., Yang, E., Schüle, R., Ebrahimi-Fakhari, D. BRAIN 10.1093/brain/awac391
The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis Bernardi Sara, Gemignani F., Marchese Maria NEUROBIOLOGY OF DISEASE 10.1016/j.nbd.2023.106258
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype¿Genotype Correlations: The Example of RYR1-Related Myopathies Dosi, C., Rubegni Anna, Baldacci, J., Galatolo Daniele, DOCCINI STEFANO, ASTREA GUJA, Berardinelli, A., Bruno, C., Bruno, G., Comi, G.P., Donati, M.A., Dotti, M.T., Filosto, M., Fiorillo, C., Giannini, F., Gigli, G.L., Grandis, M., Magri, F., Lopergolo D, Maioli, M.A., Malandrini, A., Massa, R., Matà, S., Melani, F., Messina, S., Mignarri, A., Moggio, M., Pennisi, E.M., Pegoraro, E., Ricci, G., Sacchini, M., Schenone, A., Sampaolo, S., Sciacco, M., Siciliano, G., Tasca, G., Tonin, P., Tupler, R., Valente, M., Volpi, N., CASSANDRINI DENISE ALESSANDRA, Santorelli Filippo Maria Genes 10.3390/genes14020298
Zebrafish as an Innovative Tool for Epilepsy Modeling: State of the Art and Potential Future Directions D¿Amora, M., Galgani, A., Marchese Maria, Tantussi, F., Faraguna Ugo, De Angelis, F., Giorgi, F.S. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms24097702
Brainstem anatomy with 7-T MRI: in vivo assessment and ex vivo comparison Donatelli, G., Emmi, A., Costagli Mauro, Cecchi, P., MARCHI VIVIANA, Biagi Laura, LANCIONE MARTA, TOSETTI MICHELA, Porzionato, A., De Caro, R., Cosottini, M. European Radiology Experimental 10.1186/s41747-023-00389-y
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab Scaffei Elena, Buchignani Bianca, Pasquariello Rosa, cristofani paola, Canapicchi R., Biagi Laura, Giordano F., De Marco E., Crow Y.J., BATTINI ROBERTA Frontiers in Neurology 10.3389/fneur.2023.1245014
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy BARTOLINI EMANUELE, Della Vecchia Stefania, Biagioni, Tommaso, MONTANARO DOMENICO, ferrari anna rita NEUROPEDIATRICS 10.1055/a-2067-5096
Development of BOLD Response to Motion in Human Infants Biagi Laura, TOSETTI MICHELA, Crespi, S.A., Morrone, M.C. JOURNAL OF NEUROSCIENCE 10.1523/JNEUROSCI.0837-22.2023
Double-Tuned Birdcage Radio Frequency Coil for 7 T MRI: Optimization, Construction and Workbench Validation Retico, A., Maggiorelli, F., Giovannetti, G., Boskamp, E., Robb, F., Fantasia, M., Galante, A., Alecci, M., Tiberi, G., TOSETTI MICHELA Electronics 10.3390/electronics12040901
Editorial: Advances in neuroimaging of epilepsy BARTOLINI EMANUELE, Caciagli, L., Larivière, S., Trimmel, K. Frontiers in Neurology 10.3389/fneur.2023.1142503
Generating Synthetic Radiological Images with PySynthMRI: An Open-Source Cross-Platform Tool Peretti Luca, Donatelli G., Cencini M., Cecchi P., Buonincontri G., Cosottini M., TOSETTI MICHELA, Costagli Mauro Tomography 10.3390/tomography9050137
Glycaemic Imbalances in Seizures and Epilepsy of Paediatric Age: A Literature Review BARTOLINI EMANUELE, ferrari anna rita, FIORI SIMONA, Della Vecchia Stefania Journal of Clinical Medicine 10.3390/jcm12072580
Long-term beneficial impact of the randomised trial `Train the Brain¿, a motor/cognitive intervention in mild cognitive impairment people: effects at the 14-month follow-up Sale A., Noale M., Cintoli S., Tognoni G., Braschi C., Berardi N., Maggi S., Maffei L., Maffei L., Picano E., Andreassi M.G., Angelucci A., Baldacci F., Baroncelli Laura, Begenisic T., BELLINVIA PIER FRANCESCO, Berardi N., Biagi Laura, Bonaccorsi J., Bonanni E., Bonuccelli U., Borghini A., Braschi C., Broccardi M., Bruno R.M., Caleo M., Carlesi C., Carnicelli L., Cartoni G., Cecchetti L., Cenni M.C., Ceravolo R., Chico L., Cintoli S., cioni giovanni, Coscia M., Costa M., D¿Angelo G., D¿Ascanio P., De Nes M., Del Turco S., Di Coscio E., Di Galante M., di Lascio N., Faita F., Falorni I., Faraguna Ugo, Fenu A., Fortunato L., Franco R., Gardini S, Gargiulo R., Ghiadoni L., Giorgi F.S., Iannarella R., Iofrida C., Kusmic C., Limongi F., Maestri M., Maffei M., Maggi S., Mainardi M., Mammana L., Marabotti A., Mariotti V., Melissari E., Mercuri A., Micera S., Molinaro S., Narducci R., Navarra T., Noale M., Pagni C., Palumbo S., Pasquariello Rosa, Pellegrini S., Pietrini P., Pizzorusso T., Poli A., Pratali L., Retico A., Ricciardi E., Rota G., Sale A., Sbrana S., Scabia G., Scali M., Scelfo D., Sicari R., Siciliano G., Stea F., Taddei S., Tognoni G., Tonacci A., TOSETTI MICHELA, Turchi S., Volpi L., Train the Brain Consortium AGE AND AGEING 10.1093/ageing/afad067
Mapping tissue microstructure across the human brain on a clinical scanner with soma and neurite density image metrics Schiavi S., Palombo M., Zacà D., Tazza F., Lapucci C., Castellan L., Costagli Mauro, Inglese M. HUMAN BRAIN MAPPING 10.1002/hbm.26416
Multi-Site MRI Data Harmonization with an Adversarial Learning Approach: Implementation to the Study of Brain Connectivity in Autism Spectrum Disorders Campo, Federico, Retico, Alessandra, CALDERONI SARA, Oliva, Piernicola Applied Sciences-Basel 10.3390/app13116486
Normative values of the topological metrics of the structural connectome: A multi-site reproducibility study across the Italian Neuroscience network Borrelli P, Savini G, Cavaliere C, Palesi F, Grazia Bruzzone M, Aquino D, Biagi Laura, Bosco Paolo, Carne I, Ferraro S, Giulietti G, Napolitano A, Nigri A, Pavone L, Pirastru A, Redolfi A, Tagliavini F, TOSETTI MICHELA, Salvatore M, Gandini Wheeler-Kingshott CAM, Aiello M Physica Medica-European Journal of Medical Physics 10.1016/j.ejmp.2023.102610
Quality assessment, variability and reproducibility of anatomical measurements derived from T1-weighted brain imaging: The RIN¿Neuroimaging Network case study Bosco Paolo, LANCIONE MARTA, Retico, A., Nigri, A., Aquino, D., Baglio, F., Carne, I., Ferraro, S., Giulietti, G., Napolitano, A., Palesi, F., Pavone, L., Savini, G., Tagliavini, F., Bruzzone, M.G., Gandini Wheeler-Kingshott, C.A.M., TOSETTI MICHELA, Biagi Laura Physica Medica-European Journal of Medical Physics 10.1016/j.ejmp.2023.102577
Quantitative T1 mapping detects blood¿brain barrier breakdown in apparently non-enhancing multiple sclerosis lesions Donatelli G., Cecchi P., Migaleddu G., Cencini M., Frumento P., D'Amelio C., Peretti Luca, Buonincontri G., Pasquali L., TOSETTI MICHELA, Cosottini M., Costagli Mauro NeuroImage-Clinical 10.1016/j.nicl.2023.103509
Relationship among Connectivity of the Frontal Aslant Tract, Executive Functions, and Speech and Language Impairment in Children with Childhood Apraxia of Speech Bombonato Clara, Cipriano, E., Pecini, C., Casalini Claudia, Bosco Paolo, Podda, I., TOSETTI MICHELA, Biagi Laura, chilosi anna Brain Sciences 10.3390/brainsci13010078
Simulated and experimental phantom data for multi-center quality assurance of quantitative susceptibility maps at 3 T, 7 T and 9.4 T Gustavo Cuña, E., Schulz, H., Tuzzi, E., Biagi Laura, Bosco Paolo, García-Fontes, M., Mattos, J., TOSETTI MICHELA, Engelmann, J., Scheffler, K., Hagberg, G.E. Physica Medica-European Journal of Medical Physics 10.1016/j.ejmp.2023.102590
Simultaneous relaxometry and morphometry of human brain structures with 3D magnetic resonance fingerprinting: a multicenter, multiplatform, multifield-strength study Fujita, S., Cencini, M., Buonincontri, G., Takei, N., Schulte, R.F., Fukunaga, I., Uchida, W., Hagiwara, A., Kamagata, K., Hagiwara, Y., Matsuyama, Y., Abe, O., TOSETTI MICHELA, Aoki, S. CEREBRAL CORTEX 10.1093/cercor/bhac096
mICA-Based fMRI Analysis of Specific CO2-Level-Dependent BOLD Signal Changes in the Human Brainstem Basile, M., Cauzzo, S., Callara, A.L., MONTANARO DOMENICO, Hartwig, V., Morelli, M.S., Frijia, F., Giannoni, A., Passino, C., Emdin, M., Vanello, N. Electronics 10.3390/electronics12020290
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients Traschütz, A., Adarmes-Gomez, A.D., Anheim, M., Baets, J., Falkenburger, B.H., Gburek-Augustat, J., Doss, S., Kamm, C., Klivenyi, P., Grobe-Einsler, M., Klopstock, T., Minnerop, M., Münchau, A., Pane, C., Renaud, M., Santorelli Filippo Maria, Schöls, L., Timmann, D., Vielhaber, S., Haack, T.B., van de Warrenburg, B.P., Zanni, G., Synofzik, M. MOVEMENT DISORDERS 10.1002/mds.29397
Differential diagnosis of neurodegenerative dementias with the explainable MRI based machine learning algorithm MUQUBIA De Francesco S., Crema C., Archetti D., Muscio C., Reid R.I., Nigri A., Bruzzone M.G., Tagliavini F., Lodi R., D¿Angelo E., Boeve B., Kantarci K., Firbank M., Taylor J.-P., Tiraboschi P., Redolfi A., Bruzzone M.G., Tiraboschi P., Gandini Wheeler-Kingshott C.A.M., TOSETTI MICHELA, Forloni G., D¿Angelo E., Tagliavini F., Lodi R., Agati R., Aiello M., Alberici E., Amato C., Aquino D., Arrigoni F., Baglio F., Biagi Laura, Bonanno L., Bosco Paolo, Bottino F., Bozzali M., Canessa N., Carducci C., Carne I., Carnevale L., Castellano A., Cavaliere C., Colnaghi M., Contarino V.E., Conte G., Costagli Mauro, Demichelis G., De Francesco S., Falini A., Ferraro S., Ferrazzi G., Figà Talamanca L., Fundarò C., Gaudino S., Ghielmetti F., Gianeri R., Giulietti G., Grimaldi M., Iadanza A., Inglese M., Laganà M.M., LANCIONE MARTA, Levrero F., Longo D., Lucignani G., Lucignani M., Malosio M.L., Manzo V., Marino S., Medina J.P., Micotti E., Morelli C., Muscio C., Napolitano A., Nigri A., Padelli F., Palesi F., Pantano P., Parrillo C., Pavone L., Peruzzo D., Petsas N., Pichiecchio A., Pirastru A., Politi L.S., Roccatagliata L., Rognone E., Rossi A., Rossi-Espagnet M.C., Ruvolo C., Salvatore M., Savini G., Tagliente E., Testa C., Tonon C., Tortora D., Triulzi F.M. Scientific Reports 10.1038/s41598-023-43706-6
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli Filippo Maria, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. AMERICAN JOURNAL OF HUMAN GENETICS 10.1016/j.ajhg.2023.05.009
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients Traschutz, A, Adarmes-Gomez, AD, Anheim, M, Baets, J, Brais, B, Gagnon, C, Gburek-Augustat, J, Doss, S, Hanagasi, HA, Kamm, C, Klivenyi, P, Klockgether, T, Klopstock, T, Minnerop, M, Munchau, A, Renaud, M, Santorelli Filippo Maria, Schols, L, Thieme, A, Vielhaber, S, van de Warrenburg, BP, Zanni, G, Hilgers, RD, Synofzik, M ANNALS OF NEUROLOGY 10.1002/ana.26712
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers Santorelli Filippo Maria, McLoughlin, H.S., Wolter, J.M., Galatolo Daniele, Synofzik, M., Mengel, D., Opal, P., Irina, A., Georg, A., Luis, B., Enrico, B., Sylvia, B., Samantha, B., Ronald, B., Edwin, C., Giulia, C., Nicolas, D., Alexandra, D., Andreas, E., Ewelina, E.-D., Carmen, E., Mohammed, F., Mario, F., Brent, F., Pilar, G., Holm, G., Morteza, H., Henry, H., Jeannette, H.-S., Laura, J., Osamu, O., de Luis, P.A., Guido, P., Hélène, P., Liana, R., Francesco, S., Luiza, S.-P.M., Thorsten, S., Ludger, S., Gabriella, S., Neta, Z. CEREBELLUM 10.1007/s12311-023-01561-1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Rots, D, Jakub, T.E., Keung, C, Banka, S., et all, Lopergolo D, Santorelli Filippo Maria, Brunner, H.G, Vissers, L.E.L.M, Kramer, J.M., Kleefstra, T. AMERICAN JOURNAL OF HUMAN GENETICS 10.1016/j.ajhg.2023.04.008
TitoloAutoriTestataDOI
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma Bongioanni, P., Carratore, R.D., Chandel, N., Gozutok, O., Helmold, B., Idrisoglu, H., Ozdinler, P.H., BATTINI ROBERTA, Gautam, M., Tessa Alessandra Metabolites 10.3390/metabo12020174
An automated bedside measure for monitoring neonatal cortical activity: a supervised deep learning-based electroencephalogram classifier with external cohort validation Moghadam, S.M., Airaksinen, M., Nevalainen, P., MARCHI VIVIANA, Hellström-Westas, L., Stevenson, N.J., Vanhatalo, S. Lancet Digital Health 10.1016/S2589-7500(22)00196-0
Assessing the Satisfaction and Acceptability of an Online Parent Coaching Intervention: A Mixed-Methods Approach Qu, L., Chen, H., Miller, H., Miller, A., COLOMBI COSTANZA, Chen, W., Ulrich, D.A. Frontiers in Psychology 10.3389/fpsyg.2022.859145
Asymmetry in sleep spindles and motor outcome in infants with unilateral brain injury MARCHI VIVIANA, Rizzi Riccardo, Nevalainen, P., Melani, F., Lori, S., Antonelli Camilla, Vanhatalo, S., Guzzetta Andrea DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.15244
Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice Viglione, A., Sagona Giulia, Carrara, F., Amato, G., Totaro, V., Lupori, L., Putignano, E., Pizzorusso, T., Mazziotti Raffaele Mario HUMAN MOLECULAR GENETICS 10.1093/hmg/ddac164
COVID-19 Vaccination of Individuals with Down Syndrome¿Data from the Trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to Be Vaccinated Hüls, A., Feany, P.T., Zisman, S.I., Costa, A.C.S., Dierssen, M., Balogh, R., Bargagna Stefania, Baumer, N.T., Brandão, A.C., Carfi, A., Chicoine, B.A., Ghosh, S., Lakhanpaul, M., Levin, J., Lunsky, Y., Manso, C., Okun, E., De Asua, D.R., Rebillat, A.-S., Rohrer, T.R., Sgandurra Giuseppina, Valentini, D., Sherman, S.L., Strydom, A. Vaccines 10.3390/vaccines10040530
Clinimetric properties of visuo-perceptual and visuo-cognitive assessment tools used for children with cerebral visual impairment and cerebral palsy or developmental delay: a systematic review Philip, S.S., Guzzetta Andrea, Gole, G.A., Boyd, R.N. DISABILITY AND REHABILITATION 10.1080/09638288.2021.1990421
Cognitive, academic, executive and psychological functioning in children with spastic motor type cerebral palsy: Influence of extent, location, and laterality of brain lesions Laporta-Hoyos, O., Pannek, K., Pagnozzi, A.M., Whittingham, K., Wotherspoon, J., Benfer, K., FIORI SIMONA, Ware, R.S., Boyd, R.N. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 10.1016/j.ejpn.2022.02.004
Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey Pinku, H., Hüls, A., Feany, P.T., Baumer, N., Dierssen, M., Bargagna Stefania, Costa, A.C.S., Chicoine, B.A., Rebillat, A.-S., Sgandurra Giuseppina, Valentini, D., Rohrer, R.T., Levin, J., Lakhanpaul, M., Carfì, A., Sherman, S.L., Strydom, A., Ghosh, S. Journal of Global Health 10.7189/jogh.12.05035
Drug-resistant epilepsy at the age extremes: Disentangling the underlying etiology BARTOLINI EMANUELE, ferrari anna rita, Lattanzi, S., Pradella, S., Zaccara, G. EPILEPSY & BEHAVIOR 10.1016/j.yebeh.2022.108739
Early detection of developmental delay in infants born very preterm or with very low birthweight Caesar, R.A., Boyd, R.N., Baer, E., cioni giovanni, Ware, R.S., Doherty, J., Jackson, M.P., Salthouse, K.L., Colditz, P.B., Bengtsson, K., Camadoo, L., Creen, J., De Vaney, M., Fitzpatrick, L., Gee, K., Hurley, T., Morosini, A., Thomas, C., Van de Bund, L., Weber, L. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.15381
Editorial: Women in psychiatry 2021: Autism Barone, R., COLOMBI COSTANZA Frontiers in Psychiatry 10.3389/fpsyt.2022.1090395
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome Bainbridge, MN, Mazumder, A, Ogasawara, D, Abou Jamra, R, Bernard, G, Bertini, E, Burglen, L, Cope, H, Crawford, A, Derksen, A, Dure, L, Gantz, E, Koch-Hogrebe, M, Hurst, ACE, Mahida, S, Marshall, P, Micalizzi, A, Novelli, A, Peng, HF, Rodriguez, D, Robbins, SL, Rutledge, SL, Scalise Roberta, Schliesske, S, Shashi, V, Srivastava, S, Thiffault, I, Topol, S, Qebibo, L, Wieczorek, D, Cravatt, B, Haricharan, S, Torkamani, A, Friedman, J BRAIN 10.1093/brain/awac223
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances Bertini, V., Milone Roberta, cristofani paola, Cambi, F., Bosetti, C., Barbieri, F., Bertelloni, S., cioni giovanni, Valetto, A., BATTINI ROBERTA Genes 10.3390/genes13050859
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE Balagura, G., Xian, J., Riva, A., Marchese, F., Zeev, B.B., Rios, L., Sirsi, D., Accorsi, P., Amadori, E., ASTREA GUJA, Baldassari, S., Beccaria, F., Boni, A., Budetta, M., Cantalupo, G., Capovilla, G., Cesaroni, E., Chiesa, V., Coppola, A., Dilena, R., Faggioli, R., ferrari anna rita, Fiorini, E., Madia, F., Gennaro, E., Giacomini, T., Giordano, L., Iacomino, M., Lattanzi, S., Marini, C., Mancardi, M.M., Mastrangelo, M., Messana, T., Minetti, C., Nobili, L., Papa, A., Parmeggiani, A., Pisano, T., Russo, A., Salpietro, V., Savasta, S., Scala, M., Accogli, A., Scelsa, B., Scudieri, P., Spalice, A., Specchio, N., Trivisano, M., Tzadok, M., Valeriani, M., Vari, M.S., Verrotti, A., Vigevano, F., Vignoli, A., Toonen, R., Zara, F., Helbig, I., Striano, P. Neurology-Genetics 10.1212/NXG.0000000000000676
Executive Functions and Rapid Automatized Naming: A New Tele-Rehabilitation Approach in Children with Language and Learning Disorders Capodieci, A., Romano, M., Castro, E., Di Lieto Maria Chiara, Bonetti, S., Spoglianti, S., Pecini, C. Children-Basel 10.3390/children9060822
Expanding Phenotype of Poirier¿Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients Orsini A., Santangelo A., Bravin F., Bonuccelli A., Peroni D., BATTINI ROBERTA, Foiadelli T., Bertini V., Valetto A., Iacomino M., Nigro V., Torella A.L., Scala M., Capra V., Vari M.S., Fetta A., Di Pisa V., Montanari F., Epifanio R., Bonanni P., Giorda R., Operto F., Pastorino G., Sarigecili E., Sardaroglu E., Okuyaz C., Bozdogan S., Musante L., Faletra F., Zanus C., Ferretti A., Vigevano F., Striano P., Cordelli D.M. Genes 10.3390/genes13020276
Expanding the natural history of CASK-related disorders to the prenatal period Gafner, M., Boltshauser, E., D'Abrusco, F., BATTINI ROBERTA, Romaniello, R., D'Arrigo, S., Zanni, G., Leibovitz, Z., Yosovich, K., Lerman-Sagie, T., Bertini, E.S., Brankovic, V., Buchignani, B., Cerovac, N., Ciaccio, C., Francesco, N., Gindes, L., Lev, D., Schreiber, L., Shariv, A., Valente, E.M. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.15419
Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder Medici, G., Tassinari, M., Galvani, G., Bastianini, S., Gennaccaro, L., Loi, M., Mottolese, N., Alvente, S., Berteotti, C., Sagona Giulia, Lupori, L., Candini, G., Baggett, H.R., Zoccoli, G., Giustetto, M., Muotri, A., Pizzorusso, T., Nakai, H., Trazzi, S., Ciani, E. Neurotherapeutics 10.1007/s13311-022-01295-8
Feasibility of audio-motor training with the multisensory device ABBI: Implementation in a child with hemiplegia and hemianopia TINELLI FRANCESCA, Gori, M., Beani Elena, Sgandurra Giuseppina, Martolini, C., Maselli, M., PETRI STEFANIA, Purpura, G. NEUROPSYCHOLOGIA 10.1016/j.neuropsychologia.2022.108319
Genetic modifiers of upper limb function in Duchenne muscular dystrophy Sabbatini, D., Fusto, A., Vianello, S., Villa, M., Janik, J., D¿Angelo, G., Diella, E., Magri, F., Comi, G.P., Panicucci, C., Bruno, C., D¿Amico, A., Bertini, E., ASTREA GUJA, BATTINI ROBERTA, Politano, L., Masson, R., Baranello, G., Previtali, S.C., Messina, S., Vita, G., Berardinelli, A., Mongini, T., Pini, A., Pane, M., Mercuri, E., Hoffman, E.P., Morgenroth, L., Gordish-Dressman, H., Duong, T., McDonald, C.M., Bello, L., Pegoraro, E. JOURNAL OF NEUROLOGY 10.1007/s00415-022-11133-8
Goal-oriented locomotion in children with spastic diplegia: Anticipatory orienting strategies and trajectory formation Castilla, A., Berthoz, A., cioni giovanni, Belmonti Vittorio Developmental Neurorehabilitation 10.1080/17518423.2022.2047122
Handling shifts during an overnight sailing regatta: Comparison between sleep management strategies Bruno, S., Ceccanti, S., Bazzani, A., d'Ascanio, P., Frumento, P., Faraguna Ugo SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS 10.1111/sms.14273
Impact of intermittently scanned continuous glucose monitoring with alarms on sleep and metabolic outcomes in children and adolescents with type 1 diabetes Franceschi, R., Scotton, C., Leonardi, L., Cauvin, V., Maines, E., Angriman, M., Pertile, R., Valent, F., Soffiati, M., Faraguna Ugo ACTA DIABETOLOGICA 10.1007/s00592-022-01882-3
Infant massage and brain maturation measured using EEG: A randomised controlled trial Lai, M., D'Acunto, G., Guzzetta Andrea, Finnigan, S., Ngenda, N., Ware, R.S., Boyd, R.N., Colditz, P.B. EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2022.105632
Italian Diagnostic Adaptive Behavior Scale: Reliability and diagnostic accuracy compared with the Vineland-II Balboni, G., Bacherini, A., Anselmi, P., BROVEDANI PAOLA, Buono, S., Micheletti, S., Robusto, E., Tassé, M.J. RESEARCH IN DEVELOPMENTAL DISABILITIES 10.1016/j.ridd.2022.104185
LUNCH¿Lung Ultrasound for early detection of silent and apparent aspiratioN in infants and young CHildren with cerebral palsy and other developmental disabilities: study protocol of a randomized controlled trial FIORI SIMONA, Scaramuzzo, R., Moretti Elena, Amador Carolina, Controzzi, T., Martinelli Alice, Filippi, L., Guzzetta Andrea, Gargagni, L. BMC Pediatrics 10.1186/s12887-022-03413-z
Late chronotypes, late mealtimes. Chrononutrition and sleep habits during the COVID-19 lockdown in Italy Bazzani, A., Marantonio, S., Andreozzi, G., Lorenzoni, V., Bruno, S., Cruz-Sanabria, F., d'Ascanio, P., Turchetti, G., Faraguna Ugo APPETITE 10.1016/j.appet.2022.105951
Long-term neurological and psychiatric outcomes in patients with aromatic L-amino acid decarboxylase deficiency Manti, F., Mastrangelo, M., BATTINI ROBERTA, Carducci, C., Spagnoli, C., Fusco, C., Tolve, M., Carducci, C., Leuzzi, V. PARKINSONISM & RELATED DISORDERS 10.1016/j.parkreldis.2022.08.033
Lung ultrasound in young children with neurological impairment: A proposed integrative clinical tool for deaeration-detection related to feeding FIORI SIMONA, Moretti Elena, Amador Carolina, Martinelli Alice, Scaramuzzo, R.T., Controzzi, T., BATTINI ROBERTA, Filippi, L., Guzzetta Andrea, Gargani, L. Frontiers in Pediatrics 10.3389/fped.2022.932409
Maximum downward slope of sleep slow waves as a potential marker of attention-deficit/hyperactivity disorder clinical phenotypes Fasano, A., Biancardi, C., Masi Gabriele, Della Vecchia Stefania, Frumento, P., Mazzoni, A., Falotico, E., Faraguna Ugo, Sicca, F. JOURNAL OF PSYCHIATRIC RESEARCH 10.1016/j.jpsychires.2022.10.057
Motor Influence in Developing Auditory Spatial Cognition in Hemiplegic Children with and without Visual Field Disorder Aggius-Vella, E., Gori, M., Campus, C., PETRI STEFANIA, TINELLI FRANCESCA Children-Basel 10.3390/children9071055
Multidisciplinary early intervention in Down syndrome: a retrospective study Piatti AE, Stefani B, Bini G, Bargagna Stefania Minerva Pediatrics 10.23736/S2724-5276.22.06797-0
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Normal Retinotopy in Primary Visual Cortex in a Congenital Complete Unilateral Lesion of Lateral Geniculate Nucleus in Human: A Case Study Bhat, A., Kurzawski, J.W., Anobile, G., TINELLI FRANCESCA, Biagi Laura, Morrone, M.C. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms23031055
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Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment Baroncelli Laura, Auel, S., Rinne, L., Schuster, A.-K., Brand, V., Kempkes, B., Dietrich, K., Müller, M. Antioxidants 10.3390/antiox11071406
PROMPT to improve speech motor abilities in children with cerebral palsy: a wait-list control group trial protocol FIORI SIMONA, Ragoni Carolina, Podda, I., chilosi anna, Amador Carolina, Cipriani, P., Guzzetta Andrea, Sgandurra Giuseppina BMC Neurology 10.1186/s12883-022-02771-6
Parental Practices and Environmental Differences among Infants Living in Upper-Middle and High-Income Countries: A Cross-Sectional Study Fioroni Ribeiro da Silva, C., MENICI VALENTINA, Tudella, E., Beani Elena, Barzacchi Veronica, BATTINI ROBERTA, Orsini, A., cioni giovanni, Sgandurra Giuseppina International Journal of Environmental Research and Public Health 10.3390/ijerph191710833
Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder Lamers, D., Landi, S., Mezzena, R., Baroncelli Laura, Pillai, V., Cruciani, F., Migliarini, S., Mazzoleni, S., Pasqualetti, M., Passafaro, M., Bassani, S., Ratto, G.M. Cells 10.3390/cells11121939
Poor sleep quality and unhealthy lifestyle during the lockdown: an Italian study Bruno, S., Bazzani, A., Marantonio, S., Cruz-Sanabria, F., Benedetti, D., Frumento, P., Turchetti, G., Faraguna Ugo SLEEP MEDICINE 10.1016/j.sleep.2022.01.002
Predicting motor and cognitive outcomes from MRIs of brain structure in children with acquired brain injury: A pilot study Pagnozzi, A.M., Pannek, K., Fripp, J., FIORI SIMONA, Boyd, R.N., Rose, S. Pediatrics and Neonatology 10.1016/j.pedneo.2022.07.014
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham¿s Chorea: A Multicenter Prospective Study Orsini, A., Foiadelli, T., Sica, A., Santangelo, G., Carli, N., Bonuccelli, A., Consolini, R., D¿Elios, S., Loddo, N., Verrotti, A., Di Cara, G., Marra, C., Califano, M., Fetta, A., Fabi, M., Bergamoni, S., Vignoli, A., BATTINI ROBERTA, Mosca, M., Baldini, C., Assanta, N., Marchese, P., Simonini, G., Marrani, E., Operto, F.F., Pastorino, G.M.G., Savasta, S., Santangelo, A., Pedrinelli, V., Massimetti, G., Dell¿Osso, L., Peroni, D., Cordelli, D.M., Corsi, M., Carmassi, C. International Journal of Environmental Research and Public Health 10.3390/ijerph191710586
Robot-assisted rehabilitation for children with neurological disabilities: Results of the Italian consensus conference CICERONE Castelli, E., Beretta, E., De Tanti, A., Arduini, F., Biffi, E., Colazza, A., Di Pede, C., Guzzetta Andrea, Lucarini, L., Maghini, I., Mandalà, M., Nespoli, M., Pavarelli, C., Policastro, F., Polverelli, M., Rossi, A., Sgandurra Giuseppina, Boldrini, P., Bonaiuti, D., Mazzoleni, S., Posteraro, F., Benanti, P., Draicchio, F., Falabella, V., Galeri, S., Gimigliano, F., Grigioni, M., Mazzon, S., Molteni, F., Morone, G., Petrarca, M., Picelli, A., Senatore, M., Turchetti, G., Saviola, D. NEUROREHABILITATION 10.3233/NRE-220036
Sleep Deprivation-Induced Changes in Baseline Brain Activity and Vigilant Attention Performance Tramonti Fantozzi, M.P., Banfi, T., Di Galante, M., Ciuti, G., Faraguna Ugo Brain Sciences 10.3390/brainsci12121690
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series Santangelo, A., BARTOLINI EMANUELE, Nuzzi, G., Foiadelli, T., Michev, A., Mina, T., Trambusti, I., Fichera, V., Bonuccelli, A., Massimetti, G., Peroni, D.G., De Marco, E., Coccoli, L., Luti, L., Bernasconi, S., Nardi, M., Menconi, M.C., Casazza, G., Pruna, D., Mura, R., Marra, C., Zama, D., Striano, P., Cordelli, D.M., BATTINI ROBERTA, Orsini, A. Frontiers in Neurology 10.3389/fneur.2022.920214
The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children Mazziotti Raffaele Mario, Scaffei Elena, Conti, E., MARCHI VIVIANA, Rizzi Riccardo, cioni giovanni, BATTINI ROBERTA, Baroncelli Laura Translational Psychiatry 10.1038/s41398-022-01820-5
The gut microbiota of environmentally enriched mice regulates visual cortical plasticity Lupori, L., Cornuti, S., Mazziotti Raffaele Mario, Borghi, E., Ottaviano, E., Cas, M.D., Sagona Giulia, Pizzorusso, T., Tognini, P. Cell Reports 10.1016/j.celrep.2021.110212
Visual neglect: does it exist in children with unilateral brain lesion? A systematic review Purpura, G., Guzzetta Andrea, TINELLI FRANCESCA NEUROPSYCHOLOGICAL REHABILITATION 10.1080/09602011.2022.2032762
mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder Gurgone, A., Pizzo, R., Raspanti, A., Chiantia, G., Devi, S., Comai, D., Morello, N., Pilotto, F., Gnavi, S., Lupori, L., Mazziotti Raffaele Mario, Sagona Giulia, Putignano, E., Nocentini, A., Supuran, C.T., Marcantoni, A., Pizzorusso, T., Giustetto, M. NEUROPSYCHOPHARMACOLOGY 10.1038/s41386-022-01412-3
Acute Tolerability of Methylphenidate in Treatment-Naïve Children with ADHD: An Analysis of Naturalistically Collected Data from Clinical Practice Masi Gabriele, Pfanner Chiara, Liboni Francesca, lenzi francesca, Villafranca Arianna, D'Acunto Maria Giulia, Fantozzi Pamela, Falcone, F., Simonelli, V., Muratori Pietro, Levantini, V., Favole, I., Amianto, F., Davico, C., Vitiello, B. PEDIATRIC DRUGS 10.1007/s40272-022-00492-4
Anorexia Nervosa, Body Image Perception and Virtual Reality Therapeutic Applications: State of the Art and Operational Proposal Magrini, M., Curzio, O., Tampucci, M., Donzelli, G., Cori, L., Imiotti, M.C., Maestro Sandra, Moroni, D. International Journal of Environmental Research and Public Health 10.3390/ijerph19052533
Artificial neural networks reveal sex differences in gene methylation, and connections between maternal risk factors and symptom severity in autism spectrum disorder Stoccoro, A., Gallo, R., CALDERONI SARA, Cagiano Romina, muratori filippo, Migliore, L., Grossi, E., Coppedè, F. Epigenomics 10.2217/epi-2022-0179
Auditory time thresholds in the range of milliseconds but not seconds are impaired in ADHD Anobile, G., Bartoli, M., Pfanner Chiara, Masi Gabriele, cioni giovanni, TINELLI FRANCESCA Scientific Reports 10.1038/s41598-022-05425-2
Being Born Autistic and the Forming of the Interpersonal World muratori filippo, APICELLA FABIO PSYCHOANALYTIC INQUIRY 10.1080/07351690.2022.2007019
Callous-Unemotional Traits and Intelligence in Children with Externalizing Behavioral Problems Fantozzi Pamela, Muratori Pietro, Levantini, V, Mammarella, I, Masi Gabriele, Milone Annarita, Petrucci, A, Ricci Federica, Tacchi, A, Cristofani, C, Valente Elena Children-Basel 10.3390/children9111768
Comorbidities in Youth with Bipolar Disorder: Clinical Features and Pharmacological Management Sesso G, Brancati GE, Masi Gabriele Current Neuropharmacology 10.2174/1570159X20666220706104117
Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure Hoogman, M., van Rooij, D., Klein, M., Boedhoe, P., Ilioska, I., Li, T., Patel, Y., Postema, M.C., Zhang-James, Y., Anagnostou, E., Arango, C., Auzias, G., Banaschewski, T., Bau, C.H.D., Behrmann, M., Bellgrove, M.A., Brandeis, D., Brem, S., Busatto, G.F., CALDERONI SARA, Calvo, R., Castellanos, F.X., Coghill, D., Conzelmann, A., Daly, E., Deruelle, C., Dinstein, I., Durston, S., Ecker, C., Ehrlich, S., Epstein, J.N., Fair, D.A., Fitzgerald, J., Freitag, C.M., Frodl, T., Gallagher, L., Grevet, E.H., Haavik, J., Hoekstra, P.J., Janssen, J., Karkashadze, G., King, J.A., Konrad, K., Kuntsi, J., Lazaro, L., Lerch, J.P., Lesch, K.-P., Louza, M.R., Luna, B., Mattos, P., McGrath, J., muratori filippo, Murphy, C., Nigg, J.T., Oberwelland-Weiss, E., O'Gorman Tuura, R.L., O'Hearn, K., Oosterlaan, J., Parellada, M., Pauli, P., Plessen, K.J., Ramos-Quiroga, J.A., Reif, A., Reneman, L., Retico, A., Rosa, P.G.P., Rubia, K., Shaw, P., Silk, T.J., Tamm, L., Vilarroya, O., Walitza, S., Jahanshad, N., Faraone, S.V., Francks, C., van den Heuvel, O.A., Paus, T., Thompson, P.M., Buitelaar, J.K., Franke, B. HUMAN BRAIN MAPPING 10.1002/hbm.25029
Contextual Information Modulates Pupil Size in Autistic Children Tortelli, C., Pomè, A., Turi, M., Igliozzi Roberta, Burr, D.C., Binda, P. Frontiers in Neuroscience 10.3389/fnins.2022.752871
Controversies in the Pharmacotherapy of Adolescent Depression Masi Gabriele CURRENT PHARMACEUTICAL DESIGN 10.2174/1381612828666220526150153
Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study Guillon, Q., Baduel, S., Bejarano-Martín, Á., Canal-Bedia, R., MagÁn-Maganto, M., FernÁndez-Álvarez, C., Martín-Cilleros, M.V., SÁnchez-Gómez, M.C., García-Primo, P., Rose-Sweeney, M., Boilson, A., LinertovÁ, R., Roeyers, H., Van der Paelt, S., Schendel, D., Warberg, C.K., Cramer, S., Narzisi Antonio, muratori filippo, Scattoni, M.L., Moilanen, I., Yliherva, A., Saemundsen, E., Jonsdottir, S.L., Efrim-Budisteanu, M., Arghir, A., Papuc, S.M., Vicente, A., Rasga, C., Xenia Kafka, J., Poustka, L., Kothgassner, O.D., Kawa, R., Pisula, E., Sellers, T., Posada de la Paz, M., Rogé, B. AUTISM 10.1177/13623613221080318
Disruptive Behavior Disorders: Symptoms, Evaluation and Treatment Milone Annarita, Sesso, G. Brain Sciences 10.3390/brainsci12020225
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder Caporali, L., Fiorini, C., Palombo, F., Romagnoli, M., Baccari, F., Zenesini, C., Visconti, P., Posar, A., Scaduto, M.C., Ormanbekova, D., Battaglia Agatino, TANCREDI RAFFAELLA, Cameli, C., Viggiano, M., Olivieri, A., Torroni, A., Maestrini, E., Rochat, M.J., Bacchelli, E., Carelli, V., Maresca, A. Frontiers in Genetics 10.3389/fgene.2022.953762
Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues Fabbri-Destro, M., Maugeri, F., Ianni, C., Corsini, S., Di Stefano, E., Scatigna, S., Crifaci, G., Bruzzi, G., Berloffa Stefano, Fantozzi Pamela, Prato, A., Muccio, R., Valente Elena, Pelagatti, S., Pecchini, E., Zulli, F., Rizzo, R., Milone Annarita, Viglione Valentina, Barone, R., Masi Gabriele, Narzisi Antonio Journal of Personalized Medicine 10.3390/jpm12101593
Editorial: Enrichment of social skills in adolescent and young adults with high-functioning autism spectrum disorder Narzisi Antonio, Stavropoulos, K.K.M. Frontiers in Psychiatry 10.3389/fpsyt.2022.994914
Exploring the Link between ADHD and Obesity: A Focus on Temperament Porfirio, M.C., Campanile, R., Masi Gabriele, Purper-Ouakil, D., Giovinazzo, S., Ascenzi, A., Troisi, A., Mazzone, L. Brain Sciences 10.3390/brainsci12121631
Externalizing and Internalizing Behaviors in Children with ADHD during Lockdown for COVID-19: The Role of Parental Emotions, Parenting Strategies, and Breaking Lockdown Rules Melegari, M.G., Muratori Pietro, Bruni, O., Donolato, E., Giallonardo, M., Mammarella, I. Children-Basel 10.3390/children9060923
Haste Makes Waste: There Is No Solid Evidence to Translate the Use of Stem Cells into Clinical Practice for Children with Autism Spectrum Disorder Narzisi Antonio Brain Sciences 10.3390/brainsci12080992
High-Risk Siblings without Autism: Insights from a Clinical and Eye-Tracking Study Costanzo Valeria, Narzisi Antonio, Cerullo, S., Crifaci, G., Boncoddo, M., Turi, M., APICELLA FABIO, TANCREDI RAFFAELLA, muratori filippo, CALDERONI SARA, Billeci, L. Journal of Personalized Medicine 10.3390/jpm12111789
Horticultural Therapy May Reduce Psychological and Physiological Stress in Adolescents with Anorexia Nervosa: A Pilot Study Curzio, O., Billeci, L., Belmonti Vittorio, Colantonio, S., Cotrozzi, L., De Pasquale, C.F., Morales, M.A., Nali, C., Pascali, M.A., Venturi, F., Tonacci, A., Zannoni, N., Maestro Sandra Nutrients 10.3390/nu14245198
How COVID-19 Phases Have Impacted Psychiatric Risk: A Retrospective Study in an Emergency Care Unit for Adolescents Mucci Maria, lenzi francesca, D¿Acunto, G.M., Gazzillo, M., Accorinti, I., Boldrini, S., Distefano, G., Falcone, F., Fossati, B., Giurdanella Annina, R., Paese, S., Salluce, C., Troiano, I., Fratoni, C., Fabiani, D., Liboni Francesca, Masi Gabriele Children-Basel 10.3390/children9121921
Internet Gaming Disorder in Children and Adolescents with Attention Deficit Hyperactivity Disorder Berloffa Stefano, Salvati, A., D'Acunto Maria Giulia, Fantozzi Pamela, Inguaggiato Emanuela, Lenzi, F., Milone Annarita, Muratori Pietro, Pfanner Chiara, Ricci Federica, Ruglioni Laura, Tacchi Annalisa, Tessa, C., Villafranca Arianna, Masi Gabriele Children-Basel 10.3390/children9030428
Interventions on Microbiota: Where Do We Stand on a Gut¿ Brain Link in Autism? A Systematic Review PROSPERI MARGHERITA, Santocchi, E., Guiducci, L., Frinzi, J., Morales, M.A., TANCREDI RAFFAELLA, muratori filippo, CALDERONI SARA Nutrients 10.3390/nu14030462
Looking for ¿fNIRS Signature¿ in Autism Spectrum: A Systematic Review Starting From Preschoolers Conti, E., Scaffei Elena, Bosetti, C., MARCHI VIVIANA, Costanzo Valeria, Dell¿Oste, V., Mazziotti Raffaele Mario, Dell¿Osso, L., Carmassi, C., muratori filippo, Baroncelli Laura, CALDERONI SARA, BATTINI ROBERTA Frontiers in Neuroscience 10.3389/fnins.2022.785993
Lurasidone in adolescents and adults with schizophrenia: from clinical trials to real-world clinical practice Fiorillo, A., Cuomo, A., Sampogna, G., Albert, U., Calò, P., Cerveri, G., De Filippis, S., Masi Gabriele, Pompili, M., Serafini, G., Vita, A., Zuddas, A., Fagiolini, A. EXPERT OPINION ON PHARMACOTHERAPY 10.1080/14656566.2022.2141568
Math difficulties in attention deficit hyperactivity disorder do not originate from the visual number sense Anobile, G., Bartoli, M., Masi Gabriele, Tacchi, A., TINELLI FRANCESCA Frontiers in Human Neuroscience 10.3389/fnhum.2022.949391
Multi-site harmonization of MRI data uncovers machine-learning discrimination capability in barely separable populations: An example from the ABIDE dataset Saponaro, S., Giuliano, A., Bellotti, R., Lombardi, A., Tangaro, S., Oliva, P., CALDERONI SARA, Retico, A. NeuroImage-Clinical 10.1016/j.nicl.2022.103082
Oral Health Preventive Program in Patients with Autism Spectrum Disorder Carli, E., Pasini, M., Pardossi, F., Capotosti, I., Narzisi Antonio, Lardani, L. Children-Basel 10.3390/children9040535
Parenting practices and dysregulation profile in a sample of Italian children Muratori Pietro, Levantini, V., Maggi, S., Pisano, S., Cassibba, R., Iacobellis, B., Semeraro, C., Coppola, G. JOURNAL OF AFFECTIVE DISORDERS 10.1016/j.jad.2022.01.041
Patterns of Care for Adolescent With Schizophrenia: A Delphi-Based Consensus Study Vita A., Barlati S., Bellomo A., Poli P.F., Masi Gabriele, Nobili L., Serafini G., Zuddas A., Vicari S. Frontiers in Psychiatry 10.3389/fpsyt.2022.844098
Phantom Phone Signal: why it should be of interest for psychiatry (Segnale Telefonico Fantasma: perché dovrebbe interessare la psichiatria) Pisano S., Masi Gabriele, Catone G., Muratori Pietro, Milone Annarita, Iuliano R., Rega A., Senese V.P., Santangelo P., Riccio M., Bravaccio C. Rivista di Psichiatria 10.1708/3635.36154
Psychopathic traits and emotion processing in a clinical sample of children with disruptive behavior disorder Levantini, V., Muratori Pietro, CALDERONI SARA, Inguaggiato Emanuela, Masi Gabriele, Milone Annarita, Tonacci, A., Billeci, L. CURRENT PSYCHOLOGY 10.1007/s12144-022-03138-3
Reading Behaviors through Patterns of Finger-Tracking in Italian Children with Autism Spectrum Disorder Marzi, C., Narzisi Antonio, Milone Annarita, Masi Gabriele, Pirrelli, V. Brain Sciences 10.3390/brainsci12101316
Research-Based Intervention (RBI) for Autism Spectrum Disorder: Looking beyond Traditional Models and Outcome Measures for Clinical Trials Narzisi Antonio, Alonso-Esteban, Y., Masi Gabriele, Alcantud-Marín, F. Children-Basel 10.3390/children9030430
Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2) Narzisi Antonio, Fabbri-Destro, M., Crifaci, G., Scatigna, S., Maugeri, F., Berloffa Stefano, Fantozzi Pamela, Prato, A., Muccio, R., Valente Elena, Viglione Valentina, Pecchini, E., Pelagatti, S., Rizzo, R., Milone Annarita, Barone, R., Masi Gabriele Journal of Clinical Medicine 10.3390/jcm11061668
Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium Sha, Z., van Rooij, D., Anagnostou, E., Arango, C., Auzias, G., Behrmann, M., Bernhardt, B., Bolte, S., Busatto, G.F., CALDERONI SARA, Calvo, R., Daly, E., Deruelle, C., Duan, M., Duran, F.L.S., Durston, S., Ecker, C., Ehrlich, S., Fair, D., Fedor, J., Fitzgerald, J., Floris, D.L., Franke, B., Freitag, C.M., Gallagher, L., Glahn, D.C., Haar, S., Hoekstra, L., Jahanshad, N., Jalbrzikowski, M., Janssen, J., King, J.A., Lazaro, L., Luna, B., McGrath, J., Medland, S.E., muratori filippo, Murphy, D.G.M., Neufeld, J., O¿Hearn, K., Oranje, B., Parellada, M., Pariente, J.C., Postema, M.C., Remnelius, K.L., Retico, A., Rosa, P.G.P., Rubia, K., Shook, D., Tammimies, K., Taylor, M.J., TOSETTI MICHELA, Wallace, G.L., Zhou, F., Thompson, P.M., Fisher, S.E., Buitelaar, J.K., Francks, C. MOLECULAR PSYCHIATRY 10.1038/s41380-022-01452-7
The Effect of Sleep¿Wake Routines on the Negative Emotional States and Aggressive Behaviors in Adults with Autism Spectrum Disorders (ASD) during the COVID-19 Outbreak Levante, A., Petrocchi, S., COLOMBI COSTANZA, Keller, R., Narzisi Antonio, Masi Gabriele, Lecciso, F. International Journal of Environmental Research and Public Health 10.3390/ijerph19094957
Virtual Ontogeny of Cortical Growth Preceding Mental Illness Patel Y., Shin J., Abé C., Agartz I., Alloza C., Alnæs D., Ambrogi S., Antonucci L., Arango C., Arolt V., Auzias G., Ayesa-Arriola R., Banaj N., Banaschewski T., Bandeira C., Basgöze Z., Basso Cupertino R., Bau C., Bauer J., Baumeister S., Bernardoni F., Bertolino A., Bonnin Del Mar C., Brandeis D., Brem S., Bruggemann J., Bülow R., Bustillo J.R., CALDERONI SARA, Calvo R., Canales-Rodríguez E.J., Cannon D.M., Carmona S., Carr V.J., Catts S.V., Chenji S., Chew Q.H., Coghill D., Connolly C.G., Conzelmann A., Craven A.R., Crespo-Facorro B., Cullen K., Dahl A., Dannlowski U., Davey C.G., Deruelle C., Díaz-Caneja C.M., Dohm K., Ehrlich S., Epstein J., Erwin-Grabner T., Eyler L.T., Fedor J., Fitzgerald J., Foran W., Ford J.M., Fortea L., Fuentes-Claramonte P., Fullerton J., Furlong L., Gallagher L., Gao B., Gao S., Goikolea J.M., Gotlib I., Goya-Maldonado R., Grabe H.J., Green M., Grevet E.H., Groenewold N.A., Grotegerd D., Gruber O., Haavik J., Hahn T., Harrison B.J., Heindel W., Henskens F., Heslenfeld D.J., Hilland E., Hoekstra P.J., Hohmann S., Holz N., Howells F.M., Ipser J.C., Jahanshad N., Jakobi B., Jansen A., Janssen J., Jonassen R., Kaiser A., Kaleda V., Karantonis J., King J.A., Kircher T., Kochunov P., Koopowitz S.M., Landén M., Landrø N.I., Lawrie S., Lebedeva I., Luna B., Lundervold A.J., MacMaster F.P., Maglanoc L.A., Mathalon D.H., McDonald C., McIntosh A., Meinert S., Michie P.T., Mitchell P., Moreno-Alcázar A., Mowry B., muratori filippo, Nabulsi L., Nenadic¿I., O¿Gorman Tuura R., Oosterlaan J., Overs B., Pantelis C., Parellada M., Pariente J.C., Pauli P., Pergola G., Piarulli F.M., Picon F., Piras F., Pomarol-Clotet E., Pretus C., Quidé Y., Ramos-Quiroga J.A., Radua J., Rasser P.E., Reif A., Retico A., Roberts G., Rossell S., Rovaris D.L., Rubia K., Sacchet M.D., Salavert J., Salvador R., Sarró S., Sawa A., Schall U., Scott R., Selvaggi P., Silk T., Sim K., Skoch A., Spalletta G., Spaniel F., Stein D.J., Steinsträter O., Stolicyn A., Takayanagi Y., Tamm L., Tavares M., Teumer A., Thiel K., Thomopoulos S.I., Tomecek D., Tomyshev A.S., Tordesillas-Gutiérrez D., TOSETTI MICHELA, Uhlmann A., Van Rheenen T., Vazquez-Bourgón J., Vernooij M.W., Vieta E., Vilarroya O., Weickert C., Weickert T., Westlye L.T., Whalley H., Willinger D., Winter A., Wittfeld K., Yang T.T., Yoncheva Y., Zijlmans J.L., Hoogman M., Franke B., Van Rooij D., Buitelaar J., Ching C.R.K., Andreassen O.A., Pozzi E., Veltman D., Schmaal L., Van Erp T.G.M., Turner J., Castellanos F.X., Pausova Z., Thompson P., Paus T. BIOLOGICAL PSYCHIATRY 10.1016/j.biopsych.2022.02.959
Vitamin D Status in Children with Autism Spectrum Disorders: Determinants and Effects of the Response to Probiotic Supplementation Guiducci, L., Vassalle, C., Prosperi, M., Santocchi, E., Morales, M.A., muratori filippo, CALDERONI SARA Metabolites 10.3390/metabo12070611
A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on Neurodevelopment Licitra Rosario, Marchese Maria, NAEF VALENTINA, Ogi Asahi, Martinelli, M., Kiferle, C., Fronte, B., Santorelli Filippo Maria Biomedicines 10.3390/biomedicines10081820
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Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders Baldacci, J., Calderisi, M., Fiorillo, C., Santorelli Filippo Maria, Rubegni Anna Healthcare 10.3390/healthcare10030574
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Early Findings in Neonatal Cases of RYR1¿Related Congenital Myopathies Mauri E., Piga D., Govoni A., Brusa R., Pagliarani S., Ripolone M., Dilena R., Cinnante C., Sciacco M., CASSANDRINI DENISE ALESSANDRA, Nigro V., Bresolin N., Corti S., Comi G.P., Magri F. Frontiers in Neurology 10.3389/fneur.2021.664618
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Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH Aruta Francesco, Severi Daniele, Iovino Aniello, Spina Emanuele, Barghigiani Melissa, Ruggiero Lucia, Iodice Rosa, Santorelli Filippo Maria, Manganelli Fiore, Tozza Stefano JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 10.1111/jns.12454
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The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing Tolomeo Deborah, Orsucci Daniele, NESTI CLAUDIA, Baldacci Jacopo, BATTINI ROBERTA, Bruno Claudio, Bruno Giorgia, CASSANDRINI DENISE ALESSANDRA, DOCCINI STEFANO, Donati M. Alice, ferrari anna rita, FIORI SIMONA, Fiorillo Chiara, Guerrini Renzo, Mari Francesco, Montomoli Martino, Pochiero Francesca, Procopio Elena, Ruggiero Lucia, Sampaolo Simone, SICCA FEDERICO, Ticci Chiara, Rubegni Anna, Santorelli Filippo Maria Journal of Clinical Medicine 10.3390/jcm10153222
ß-Glucans as Dietary Supplement to Improve Locomotion and Mitochondrial Respiration in a Model of Duchenne Muscular Dystrophy Brogi Letizia, Marchese Maria, Cellerino Alessandro, Licitra Rosario, NAEF VALENTINA, Mero Serena, Bibbiani Carlo, Fronte Baldassare Nutrients 10.3390/nu13051619
Accelerated 3D whole-brain T1, T2, and proton density mapping: feasibility for clinical glioma MR imaging Pirkl Carolin M., Nunez-Gonzalez Laura, Kofler Florian, Endt Sebastian, Grundl Lioba, Golbabaee Mohammad, Gómez Pedro A., CENCINI MATTEO, Buonincontri Guido, Schulte Rolf F., Smits Marion, Wiestler Benedikt, Menze Bjoern H., Menzel Marion I., Hernandez-Tamames Juan A. NEURORADIOLOGY 10.1007/s00234-021-02703-0
Complementing canonical fMRI with functional Quantitative Susceptibility Mapping (fQSM) in modern neuroimaging research LANCIONE MARTA, Costagli Mauro, Handjaras Giacomo, TOSETTI MICHELA, Ricciardi Emiliano, Pietrini Pietro, Cecchetti Luca NEUROIMAGE 10.1016/j.neuroimage.2021.118574
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging Biagi Laura, Lenzi Sara, Cipriano Emilio, FIORI SIMONA, Bosco Paolo, cristofani paola, ASTREA GUJA, Pini Antonella, cioni giovanni, Mercuri Eugenio, TOSETTI MICHELA, BATTINI ROBERTA PLoS One 10.1371/journal.pone.0250420
Pattern-Matching Unit for Medical Applications Leombruni Orlando, Annovi Alberto, Giannetti Paola, Biesuz Nicolo Vladi, Roda Chiara, Calvetti Milene, Piendibene Marco, Peretti Luca, CENCINI MATTEO, TOSETTI MICHELA, Buonincontri Guido IEEE TRANSACTIONS ON NUCLEAR SCIENCE 10.1109/TNS.2021.3083894
Probing the Role of a Regional Quantitative Assessment of Amyloid PET Peira Enrico, Grazzini Matteo, Bauckneht Matteo, Sensi Francesco, Bosco Paolo, Arnaldi Dario, Morbelli Silvia, Chincarini Andrea, Pardini Matteo, Nobili Flavio JOURNAL OF ALZHEIMERS DISEASE 10.3233/JAD-201156
Quantitative imaging metrics derived from magnetic resonance fingerprinting using ISMRM/NIST MRI system phantom Shridhar Konar Amaresha, Qian Enlin, Geethanath Sairam, Buonincontri Guido, Obuchowski Nancy A., Fung Maggie, Gomez Pedro, Schulte Rolf, CENCINI MATTEO, TOSETTI MICHELA, Schwartz Lawrence H., Shukla-Dave Amita MEDICAL PHYSICS 10.1002/mp.14833
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 Riso Vittorio, Galatolo Daniele, Barghigiani Melissa, Galosi Serena, Tessa Alessandra, RICCA IVANA, Rossi Salvatore, Caputi Caterina, Cioffi Ettore, Leuzzi Vincenzo, Casali Carlo, Santorelli Filippo Maria, Silvestri Gabriella EUROPEAN JOURNAL OF NEUROLOGY 10.1111/ene.14868
Application of a clinical workflow may lead to increased diagnostic precision in hereditary spastic paraplegias and cerebellar ataxias Riso Vittorio, Rossi Salvatore, Nicoletti Tommaso F., Tessa Alessandra, Travaglini Lorena, Zanni Ginevra, Aiello Chiara, Perna Alessia, Barghigiani Melissa, Pomponi Maria Grazia, Santorelli Filippo Maria, Silvestri Gabriella Brain Sciences 10.3390/brainsci11020246
Bi-allelic variants in MDH2: Expanding the clinical phenotype Ticci Chiara, NESTI CLAUDIA, Rubegni Anna, DOCCINI STEFANO, Baldacci Jacopo, DAL CANTO FLAVIO, Ragni Luca, Cordelli Duccio M., Donati Maria Alice, Santorelli Filippo Maria CLINICAL GENETICS 10.1111/cge.14088
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia Wiessner Manuela, Maroofian Reza, Ni Meng Yuan, Pedroni Andrea, Müller Juliane S., Stucka Rolf, Beetz Christian, Efthymiou Stephanie, Santorelli Filippo Maria, Alfares Ahmed A., Zhu Changlian, Uhrova Meszarosova Anna, Alehabib Elham, Bakhtiari Somayeh, Janecke Andreas R., Otero Maria Gabriela, Chen Jin Yun Helen, Peterson James T., Strom Tim M., De Jonghe Peter, Deconinck Tine, De Ridder Willem, De Winter Jonathan, Pasquariello Rosa, RICCA IVANA, Alfadhel Majid, Van De Warrenburg Bart P., Portier Ruben, Bergmann Carsten, Ghasemi Firouzabadi Saghar, Jin Sheng Chih, Bilguvar Kaya, Hamed Sherifa, Abdelhameed Mohammed, Haridy Nourelhoda A., Maqbool Shazia, Rahman Fatima, Anwar Najwa, Carmichael Jenny, Pagnamenta Alistair, Wood Nick W., Tran Mau-Them Frederic, Haack Tobias, Di Rocco Maja, Ceccherini Isabella, Iacomino Michele, Zara Federico, Salpietro Vincenzo, Scala Marcello, Rusmini Marta, Genomics England Research Consortium, PREPARE network Gruppo BRAIN 10.1093/brain/awab041
Efficient neuroprotective rescue of sacsin-related disease phenotypes in zebrafish NAEF VALENTINA, Marchese Maria, Ogi Asahi, Fichi Gianluca, Galatolo Daniele, Licitra Rosario, DOCCINI STEFANO, Verri Tiziano, Argenton Francesco, Morani Federica, Santorelli Filippo Maria INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms22168401
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology Morani Federica, DOCCINI STEFANO, Chiorino Giovanna, Fattori Fabiana, Galatolo Daniele, Sciarrillo Elisa, Gemignani Federica, Züchner Stephan, Bertini Enrico Silvio, Santorelli Filippo Maria Frontiers in Neurology 10.3389/fneur.2020.603774
Learning from massive testing of mitochondrial disorders Tolomeo Deborah, Rubegni Anna, NESTI CLAUDIA, Barghigiani Melissa, BATTINI ROBERTA, D'Amore Francesca, DOCCINI STEFANO, Donati Maria Alice, Galatolo Daniele, Giglio Sabrina, Guarducci Silvia, Pantaleo Marilena, Pasquariello Rosa, Procopio Elena, Pochiero Francesca, Tessa Alessandra, Santorelli Filippo Maria JOURNAL OF MEDICAL GENETICS 10.1136/jmedgenet-2020-107644
NGS in Hereditary Ataxia: When Rare Becomes Frequent Galatolo Daniele, De Michele Giovanna, Silvestri Gabriella, Leuzzi Vincenzo, Casali Carlo, Musumeci Olimpia, Antenora Antonella, ASTREA GUJA, Barghigiani Melissa, BATTINI ROBERTA, Battisti Carla, Caputi Caterina, Cioffi Ettore, De Michele Giuseppe, Dotti Maria Teresa, Fico Tommasina, Fiorillo Chiara, Galosi Serena, Lieto Maria, Malandrini Alessandro, Melone Marina A.B., Mignarri Andrea, Natale Gemma, Pegoraro Elena, Petrucci Antonio, RICCA IVANA, Riso Vittorio, Rossi Salvatore, Rubegni Anna, Scarlatti Arianna, TINELLI FRANCESCA, TROVATO ROSANNA, Tedeschi Gioacchino, Tessa Alessandra, Filla Alessandro, Santorelli Filippo Maria INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms22168490
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3D printable device for automated operant conditioning in the mouse Mazziotti R., Sagona Giulia, Lupori L., Martini V., Pizzorusso T. eNeuro 10.1523/ENEURO.0502-19.2020
A new protocol for assessing action observation and imitation abilities in children with Developmental Coordination Disorder: A feasibility and reliability study Bieber, E., Smits-Engelsman, BCM., Sgandurra G., Di Gregorio F., Guzzetta A., Cioni G., FeysK S., Klingels K. HUMAN MOVEMENT SCIENCE 10.1016/j.humov.2020.102717
Age and sex prevalence estimate of Joubert syndrome in Italy JS Italian Study Group Gruppo, Nuovo Sara, Bacigalupo Ilaria, Ginevrino Monia, Battini Roberta, Bertini Enrico, Borgatti Renato, Casella Antonella, Micalizzi Alessia, Nardella Marta, Romaniello Romina, Serpieri Valentina, Zanni Ginevra, Valente Enza Maria, Vanacore Nicola NEUROLOGY 10.1212/WNL.0000000000008996
Clinical tools used in young infants born very preterm to predict motor and cognitive delay (not cerebral palsy): a systematic review Caesar R, Colditz PB, Cioni G., Boyd RN DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.14730
Cortical thickness of primary visual cortex correlates with motion deficits in periventricular leukomalacia Bhat A, Biagi Laura, Cioni Giovanni, Tinelli Francesca, Morrone Maria Concetta NEUROPSYCHOLOGIA 10.1016/j.neuropsychologia.2020.107717
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency Alessandri Maria Grazia, Cacciante F, Gennaro M, BATTINI ROBERTA, Sagona Giulia, cioni giovanni, Mazziotti R, Pizzorusso T, Lupori L, Baroncelli Laura, Cerri E, Putignano E, Butt M, Do M-HT, McKew JC Scientific Reports 10.1038/s41598-020-75436-4
Early Childhood Attention Battery: Italian adaptation and new expanded normative data Coratti G, Mallardi M, Coppola C, Tinelli Francesca, Bartoli Mariaelisa, Laganà V, Lucibello S, Sivo S, Gallini F, Romeo DM, Atkinson J, Braddick O, Mercuri E, Ricci D EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2020.105013
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Efficient embedded sleep wake classification for open-source actigraphy Banfi T, Valigi N, di Galante M, d¿Ascanio P, Ciuti G, Faraguna Ugo Scientific Reports 10.1038/s41598-020-79294-y
Empowering Executive Functions in 5- and 6-Year-Old Typically Developing Children Through Educational Robotics: An RCT Study Di Lieto Maria Chiara, Pecini C, Castro E, Inguaggiato Emanuela, Cecchi F, Dario P, cioni giovanni, Sgandurra Giuseppina Frontiers in Psychology 10.3389/fpsyg.2019.03084
Feasibility Analysis of CareToy-Revised Early Intervention in Infants at High Risk for Cerebral Palsy Beani Elena, MENICI VALENTINA, Cecchi A, Cioni ML, Giampietri M, Rizzi R, Sgandurra Giuseppina, cioni giovanni, CareToy-R Consortium Frontiers in Neurology 10.3389/fneur.2020.601137
Feasibility of a Home-Based Action Observation Training for Children With Unilateral Cerebral Palsy: An Explorative Study Beani Elena, MENICI VALENTINA, ferrari anna rita, cioni giovanni, Sgandurra Giuseppina Frontiers in Neurology 10.3389/fneur.2020.00016
Functional, neuroplastic and biomechanical changes induced by early Hand-Arm Bimanual Intensive Therapy Including Lower Extremities (e-HABIT-ILE) in pre-school children with unilateral cerebral palsy: Study protocol of a randomized control trial Araneda R, Sizonenko SV, Newman CJ, Dinomais M, Le Gal G, Nowak E, Guzzetta Andrea, Riquelme I, Brochard S, Bleyenheuft Y, Paradis Julie Marie, Ebner-Karestinos D, Saussez G, Klöcker A, Bailly R, Bouvier S, Demas J, Early HABIT-ILE group BMC Neurology 10.1186/s12883-020-01705-4
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Grammatical comprehension in italian children with autism spectrum disorder Barsotti J, Mangani G, Nencioli R, Pfanner L, Tancredi Raffaella, Cosenza A, Sesso G, Narzisi Antonio, Muratori Filippo, Cipriani P, Chilosi AnnaM Brain Sciences 10.3390/brainsci10080510
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: A case report Alessandrì Maria Grazia, Strigini F, Cioni Giovanni, Battini Roberta BMC Pregnancy and Childbirth
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Intranasal delivery of BDNF rescues memory deficits in AD11 mice and reduces brain microgliosis Braschi C, Capsoni S, Narducci R, Poli A, Sansevero Gabriele, Brandi R, Maffei L, Cattaneo A, Berardi N AGING CLINICAL AND EXPERIMENTAL RESEARCH 10.1007/s40520-020-01646-5
Is EEG Suitable for Marketing Research? A Systematic Review Bazzani A, Ravaioli S, Trieste L, Faraguna Ugo, Turchetti G Frontiers in Neuroscience 10.3389/fnins.2020.594566
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Measuring Cot-Side the Effects of Parenteral Nutrition on Preterm Cortical Function MARCHI VIVIANA, Stevenson N, Koolen N, Mazziotti R, Moscuzza F, Salvadori S, pieri rossella, Ghirri P, Guzzetta Andrea, Vanhatalo S Frontiers in Human Neuroscience 10.3389/fnhum.2020.00069
MiR-29 coordinates age-dependent plasticity brakes in the adult visual cortex Napoli D, Lupori L, Mazziotti R, Sagona Giulia, Bagnoli S, Samad M, Sacramento EK, Kirkpartick J, Putignano E, Chen S, Terzibasi Tozzini E, Tognini P, Baldi P, Kwok JCF, Cellerino A, Pizzorusso T EMBO REPORTS 10.15252/embr.202050431
Movement Disorders - Childhood Rating Scale 4-18
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Neonatal neuroimaging and neurophysiology predict infantile onset epilepsy after perinatal hypoxic ischemic encephalopathy Nevalainen P, Metsäranta M, Toiviainen-Salo S, MARCHI VIVIANA, Mikkonen K, Vanhatalo S, Lauronen L SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 10.1016/j.seizure.2020.07.002
Predictive validity of the Hand Assessment for Infants in infants at risk of unilateral cerebral palsy Ryll UC, Krumlinde-Sundholm L, Verhage CH, Sicola E, Sgandurra Giuseppina, Bastiaenen CHG, Eliasson A-C DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.14739
Preservation of Visual Cortex Plasticity in Retinitis Pigmentosa Begenisic Tatjana, Mazziotti Raffaele, Sagona Giulia, Lupori Leonardo, Sale Alessandro, Galli Lucia, Baroncelli Laura NEUROSCIENCE 10.1016/j.neuroscience.2019.10.045
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Protocol of changes induced by early Hand-Arm Bimanual Intensive Therapy including Lower Extremities (e-HABIT-ILE) in pre-school children with bilateral cerebral palsy: A multisite randomized controlled trial Araneda R, Sizonenko SV, Newman CJ, Dinomais M, Le Gal G, Ebner-Karestinos D, Paradis Julie Marie, Klöcker A, Saussez G, Demas J, Bailly R, Bouvier S, Nowak E, Guzzetta Andrea, Riquelme I, Brochard S, Bleyenheuft Y BMC Neurology 10.1186/s12883-020-01820-2
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Reorganization of action observation and sensory-motor networks after action observation therapy in children with congenital hemiplegia: A pilot study Sgandurra Giuseppina, Biagi Laura, Fogassi L, ferrari anna rita, Sicola E, Guzzetta Andrea, TOSETTI MICHELA, cioni giovanni Developmental Neurobiology 10.1002/dneu.22783
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Structural brain damage and visual disorders in children with cerebral palsy due to periventricular leukomalacia Tinelli Francesca, Guzzetta Andrea, Purpura Giulia, Pasquariello Rosaosa, Cioni Giovanni, Fiori Simona NeuroImage-Clinical 10.1016/j.nicl.2020.102430
Supporting Play, Exploration, and Early Development Intervention (SPEEDI) for preterm infants: A feasibility randomised controlled trial in an Australian context Finlayson F, Olsen J, Dusing SC, Guzzetta Andrea, Eeles A, Spittle A EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2020.105172
Temporal representation impairment in developmental dyslexia for unisensory and multisensory stimuli Gori M, Ober KM, TINELLI FRANCESCA, Coubard OA DEVELOPMENTAL SCIENCE 10.1111/desc.12977
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The visual white matter connecting human area prostriata and the thalamus is retinotopically organized Kurzawski JW, Mikellidou K, Morrone Maria Concetta, Pestilli F Brain Structure & Function 10.1007/s00429-020-02096-5
Towards multimodal brain monitoring in asphyxiated newborns with amplitude-integrated EEG and simultaneous somatosensory evoked potentials Nevalainen, P, Metsäranta, M, MARCHI VIVIANA, (), Vanhatalo, S, Lauronen, L EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2020.105287
Understanding the impact of bilateral brain injury in children with unilateral cerebral palsy Pagnozzi AM, Pannek K, Fripp J, FIORI SIMONA, Boyd RN, Rose S HUMAN BRAIN MAPPING 10.1002/hbm.24978
Visuo-haptic transfer for object recognition in children with peripheral visual impairment Purpura Giulia, Febbrini Del Magro E, Caputo R, Cioni Giovanni, Tinelli Francesca VISION RESEARCH 10.1016/j.visres.2020.06.008
Voluntary physical exercise reduces motor dysfunction and hampers tumor cell proliferation in a mouse model of glioma Tantillo E, Colistra A, Baroncelli Laura, Costa M, Caleo M, Vannini E International Journal of Environmental Research and Public Health 10.3390/ijerph17165667
Vowel variability and contrast in Childhood Apraxia of Speech: acoustics and articulation Lenoci G, Celata C, Ricci I, chilosi anna, Barone V CLINICAL LINGUISTICS & PHONETICS 10.1080/02699206.2020.1853811
A Combined Study on the Use of the Child Behavior Checklist 1¿¿5 for Identifying Autism Spectrum Disorders at 18 Months Chericoni Natasha, Balboni G, Costanzo Valeria, Mancini Alice, PROSPERI MARGHERITA, Lasala R, TANCREDI RAFFAELLA, Scattoni ML, Molteni M, Valeri G, Vicari S, Zoccante L, Arduino M, Venuti P, Sogos C, Guzzetta Andrea, on behalf of the NIDA Network: , muratori filippo, APICELLA FABIO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 10.1007/s10803-020-04838-0
A naturalistic study of youth referred to a tertiary care facility for acute hypomanic or manic episode Masi Gabriele, Berloffa Stefano, Muratori Pietro, Mucci Maria, Viglione V, Villafranca Arianna, Inguaggiato Emanuela, Levantini Valentina, Placini F, Pfanner Chiara, D¿acunto G, lenzi francesca, Liboni F, Milone Annarita Brain Sciences 10.3390/brainsci10100689
A two-stage screening approach with I-TC and Q-CHAT to identify toddlers at risk for autism spectrum disorder within the italian public health system Devescovi R, Monasta L, Bin M, Bresciani G, Mancini Alice, Carrozzi M, Colombi C Brain Sciences 10.3390/brainsci10030184
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini Alice, TANCREDI RAFFAELLA, Battaglia Agatino, Maestrini E Scientific Reports 10.1038/s41598-020-59922-3
Associations between Learning and Behavioral
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Autism Spectrum Disorder and Disruptive Behavior
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Autism spectrum disorder and childhood apraxia of speech: Early language-related hallmarks across structural mri study Conti Eugenia, Retico A, Palumbo L, Spera G, Bosco Paolo, Biagi Laura, FIORI SIMONA, TOSETTI MICHELA, Cipriani P, cioni giovanni, muratori filippo, chilosi anna, CALDERONI SARA Journal of Personalized Medicine 10.3390/jpm10040275
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Cyclothymic-hypersensitive temperament in youths: Refining the structure, the way of assessment and the clinical significance in the youth population Pisano S, Senese VP, Bravaccio C, Santangelo P, Milone Annarita, Masi Gabriele, Catone G JOURNAL OF AFFECTIVE DISORDERS 10.1016/j.jad.2020.03.155
EYES Are The Window to the Mind: Eye-Tracking Technology as a Novel Approach to Study Clinical Characteristics of ADHD Levantini Valentina, Muratori Pietro, Inguaggiato Emanuela, Masi Gabriele, Milone Annarita, Valente E, Tonacci A, Billeci L PSYCHIATRY RESEARCH 10.1016/j.psychres.2020.113135
Effects of Probiotic Supplementation on Gastrointestinal, Sensory and Core Symptoms in Autism Spectrum Disorders: A Randomized Controlled Trial Santocchi Elisa, Guiducci L, PROSPERI MARGHERITA, CALDERONI SARA, Gaggini M, APICELLA FABIO, TANCREDI RAFFAELLA, Billeci L, Mastromarino P, Grossi E, Gastaldelli A, Morales MA, muratori filippo Frontiers in Psychiatry 10.3389/fpsyt.2020.550593
Emotional dysregulation and callous unemotional traits as possible predictors of short-term response to methylphenidate monotherapy in drug-naïve youth with ADHD Masi Gabriele, Fantozzi Pamela, Muratori Pietro, Bertolucci G, Tacchi A, Villafranca Arianna , Pfanner Chiara, Cortese S COMPREHENSIVE PSYCHIATRY 10.1016/j.comppsych.2020.152178
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia Agatino, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S AMERICAN JOURNAL OF HUMAN GENETICS 10.1016/j.ajhg.2020.07.003
Evaluation of chromosome microarray analysis in a large cohort of females with autism spectrum disorders: A single center Italian study CALDERONI SARA, RICCA IVANA, Balboni G, Cagiano R, CASSANDRINI DENISE ALESSANDRA, DOCCINI STEFANO, Cosenza A, Tolomeo Deborah, TANCREDI RAFFAELLA, Santorelli Filippo Maria, muratori filippo Journal of Personalized Medicine 10.3390/jpm10040160
Exclusive breastfeeding predicts higher hearing-language development in girls of preschool age Guzzardi MA, Granziera F, Sanguinetti E, Ditaranto F, Muratori Filippo, Iozzo P Nutrients 10.3390/nu12082320
Exploring the Efficacy of a Mindfulness Program for Boys With Attention-Deficit Hyperactivity Disorder and Oppositional Defiant Disorder Muratori Pietro, Conversano C, Levantini Valentina, Masi Gabriele, Milone Annarita, Villani S, Bögels S, Gemignani A Journal of Attention Disorders 10.1177/1087054720915256
George Frankl: an undervalued voice in the history of autism Muratori Filippo, Calderoni Sara, Bizzari V EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 10.1007/s00787-020-01622-4
Handle the autism spectrum condition during coronavirus (Covid-19) stay at home period: Ten tips for helping parents and caregivers of young children Narzisi Antonio Brain Sciences 10.3390/brainsci10040207
Human figure drawings in children with autism spectrum disorders: A possible window on the inner or the outer world Papangelo P, Pinzino M, Pelagatti S, Fabbri-Destro M, Narzisi Antonio Brain Sciences 10.3390/brainsci10060398
Individual and Environmental Factors Affecting Adaptive Behavior of Toddlers with Autism Spectrum Disorder: Role of Parents¿ Socio-cultural Level Balboni G, Bacherini A, Rebecchini G, Cagiano R, Mancini Alice, TANCREDI RAFFAELLA, Igliozzi R, muratori filippo JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 10.1007/s10803-020-04803-x
Internet addiction disorder in referred adolescents: a clinical study on comorbidity Masi Gabriele, Berloffa Stefano, Muratori Pietro, Paciello M, Rossi M, Milone Annarita ADDICTION RESEARCH & THEORY 10.1080/16066359.2020.1772242
Lower gray matter volumes of frontal lobes and insula in adolescents with anorexia nervosa restricting type: Findings from a Brain Morphometry Study Curzio O, Calderoni Sara, Maestro Sandra, Rossi G, De Pasquale CF, Belmonti V, Apicella Fabio, Muratori Filippo, Retico A EUROPEAN PSYCHIATRY 10.1192/j.eurpsy.2020.19
Motor coordination impairment in children with autism spectrum disorder: A pilot study using Movement Assessment Battery for Children-2 Checklist Purpura Giulia, Fulceri F, Puglisi V, Masoni P, Contaldo Annarita MINERVA PEDIATRICA 10.23736/S0026-4946.16.04633-8
Narcissistic traits as predictors of emotional problems in children with oppositional defiant disorder: A longitudinal study Muratori Pietro, Milone Annarita, Levantini Valentina, Pisano S, Spensieri V, Valente E, Thomaes S, Masi Gabriele JOURNAL OF AFFECTIVE DISORDERS 10.1016/j.jad.2020.05.075
Origins and evaluation of youth narcissism [Eziopatogenesi e valutazione dei tratti narcisistici in età evolutiva] Muratori Pietro, Milone Annarita, Buonanno C, Ianni S, Inguaggiato Emanuela, Levantini Valentina, Pisano S, Valente E, Masi Gabriele Rivista di Psichiatria 10.1708/3333.33021
Phase 2 and Later of COVID-19 Lockdown: Is it Possible to Perform Remote Diagnosis and Intervention for Autism Spectrum Disorder? An Online-Mediated Approach Narzisi Antonio Journal of Clinical Medicine 10.3390/jcm9061850
Post-traumatic stress reactions in caregivers of children and adolescents/young adults with severe diseases: A systematic review of risk and protective factors Carmassi C, Dell¿oste V, Foghi C, Bertelloni CA, Conti Eugenia, Calderoni Sara, Battini Roberta, Dell¿osso L International Journal of Environmental Research and Public Health 10.3390/ijerph18010189
Psychopathological features in referred adolescents with psychogenic nonepileptic seizures with or without epilepsy Masi Gabriele, Madonia U, Ferrari Anna Rita, Sicca Federico , Brovedani Paola, D'Acunto G, Mucci Maria, Lenzi Francesca EPILEPSY & BEHAVIOR 10.1016/j.yebeh.2020.107431
Received Cradling Bias During the First Year of Life: A Retrospective Study on Children With Typical and Atypical Development Malatesta G, Marzoli D, Apicella Fabio, Abiuso C, Muratori Filippo, Forrester GS, Vallortigara G, Scattoni ML, Tommasi L Frontiers in Psychiatry 10.3389/fpsyt.2020.00091
Sensory processing related to attention in children with ASD, ADHD, or typical development: results from the ELENA cohort Dellapiazza F, Michelon C, Vernhet C, muratori filippo, Blanc N, Picot M-C, Baghdadli A, Baghdadli A, Chabaux C, Chatel C, Cohen D, Damville E, Geoffray M-M, Gicquel L, Jardri R, Maffre T, Novo A, Odoyer R, Oreve M-J, Périsse D, Poinso F, Pottelette J, Robel L, Rolland C, Schoenberger M, Serret S, Sonié S, Speranza M, Vespirini S, for ELENA study group EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 10.1007/s00787-020-01516-5
Sleep Disorders in Children and Adolescents with Autism Spectrum Disorder: Diagnosis, Epidemiology, and Management Cortese S, Wang F, Angriman M, Masi Gabriele, Bruni O CNS DRUGS 10.1007/s40263-020-00710-y
Subcortical Brain Volume, Regional Cortical Thickness, and Cortical Surface Area Across Disorders: Findings From the ENIGMA ADHD, ASD, and OCD Working Groups Premika S W Boedhoe,  Daan van Rooij,  Martine Hoogman 1,  Jos W R Twisk 1,  Lianne Schmaal 1,  Yoshinari Abe 1,  Pino Alonso 1,  Stephanie H Ameis 1,  Anatoly Anikin 1,  Alan Anticevic 1,  Celso Arango 1,  Paul D Arnold 1,  Philip Asherson 1,  Francesca Assogna 1,  Guillaume Auzias 1,  Tobias Banaschewski 1,  Alexander Baranov 1,  Marcelo C Batistuzzo 1,  Sarah Baumeister 1,  Ramona Baur-Streubel 1,  Marlene Behrmann 1,  Mark A Bellgrove 1,  Francesco Benedetti 1,  Jan C Beucke 1,  Joseph Biederman 1,  Irene Bollettini 1,  Anushree Bose 1,  Janita Bralten 1,  Ivanei E Bramati 1,  Daniel Brandeis 1,  Silvia Brem 1,  Brian P Brennan 1,  Geraldo F Busatto 1,  Sara Calderoni 1,  Anna Calvo 1,  Rosa Calvo 1,  Francisco X Castellanos 1,  Mara Cercignani 1,  Tiffany M Chaim-Avancini 1,  Kaylita C Chantiluke 1,  Yuqi Cheng 1,  Kang Ik K Cho 1,  Anastasia Christakou 1,  David Coghill 1,  Annette Conzelmann 1,  Ana I Cubillo 1,  Anders M Dale 1,  Sara Dallaspezia 1,  Eileen Daly 1,  Damiaan Denys 1,  Christine Deruelle 1,  Adriana Di Martino 1,  Ilan Dinstein 1,  Alysa E Doyle 1,  Sarah Durston 1,  Eric A Earl 1,  Christine Ecker 1,  Stefan Ehrlich 1,  Benjamin A Ely 1,  Jeffrey N Epstein 1,  Thomas Ethofer 1,  Damien A Fair 1,  Andreas J Fallgatter 1,  Stephen V Faraone 1,  Jennifer Fedor 1,  Xin Feng 1,  Jamie D Feusner 1,  Jackie Fitzgerald 1,  Kate D Fitzgerald 1,  Jean-Paul Fouche 1,  Christine M Freitag 1,  Egill A Fridgeirsson 1,  Thomas Frodl 1,  Matt C Gabel 1,  Louise Gallagher 1,  Tinatin Gogberashvili 1,  Ilaria Gori 1,  Patricia Gruner 1,  Deniz A Gürsel 1,  Shlomi Haar 1,  Jan Haavik 1,  Geoffrey B Hall 1,  Neil A Harrison 1,  Catharina A Hartman 1,  Dirk J Heslenfeld 1,  Yoshiyuki Hirano 1,  Pieter J Hoekstra 1,  Marcelo Q Hoexter 1,  Sarah Hohmann 1,  Marie F Høvik 1,  Hao Hu 1,  Chaim Huyser 1,  Neda Jahanshad 1,  Maria Jalbrzikowski 1,  Anthony James 1,  Joost Janssen 1,  Fern Jaspers-Fayer 1,  Terry L Jernigan 1,  Dmitry Kapilushniy 1,  Bernd Kardatzki 1,  Georgii Karkashadze 1,  Norbert Kathmann 1,  Christian Kaufmann 1,  Clare Kelly 1,  Sabin Khadka 1,  Joseph A King 1,  Kathrin Koch 1,  Gregor Kohls 1,  Kerstin Konrad 1,  Masaru Kuno 1,  Jonna Kuntsi 1,  Gerd Kvale 1,  Jun Soo Kwon 1,  Luisa Lázaro 1,  Sara Lera-Miguel 1,  Klaus-Peter Lesch 1,  Liesbeth Hoekstra 1,  Yanni Liu 1,  Christine Lochner 1,  Mario R Louza 1,  Beatriz Luna 1,  Astri J Lundervold 1,  Charles B Malpas 1,  Paulo Marques 1,  Rachel Marsh 1,  Ignacio Martínez-Zalacaín 1,  David Mataix-Cols 1,  Paulo Mattos 1,  Hazel McCarthy 1,  Jane McGrath 1,  Mitul A Mehta 1,  José M Menchón 1,  Maarten Mennes 1,  Mauricio Moller Martinho 1,  Pedro S Moreira 1,  Astrid Morer 1,  Pedro Morgado 1,  Filippo Muratori 1,  Clodagh M Murphy 1,  Declan G M Murphy 1,  Akiko Nakagawa 1,  Takashi Nakamae 1,  Tomohiro Nakao 1,  Leyla Namazova-Baranova 1,  Janardhanan C Narayanaswamy 1,  Rosa Nicolau 1,  Joel T Nigg 1,  Stephanie E Novotny 1,  Erika L Nurmi 1,  Eileen Oberwelland Weiss 1,  Ruth L O'Gorman Tuura 1,  Kirsten O'Hearn 1,  Joseph O'Neill 1,  Jaap Oosterlaan 1,  Bob Oranje 1,  Yannis Paloyelis 1,  Mara Parellada 1,  Paul Pauli 1,  Chris Perriello 1,  John Piacentini 1,  Fabrizio Piras 1,  Federica Piras 1,  Kerstin J Plessen 1,  Olga Puig 1,  J Antoni Ramos-Quiroga 1,  Y C Janardhan Reddy 1,  Andreas Reif 1,  Liesbeth Reneman 1,  Alessandra Retico 1,  Pedro G P Rosa 1,  Katya Rubia 1,  Oana Georgiana Rus 1,  Yuki Sakai 1,  Anouk Schrantee 1,  Lena Schwarz 1,  Lizanne J S Schweren 1,  Jochen Seitz 1,  Philip Shaw 1,  Devon Shook 1,  Tim J Silk 1,  H Blair Simpson 1,  Norbert Skokauskas 1,  Juan Carlos Soliva Vila 1,  Anastasia Solovieva 1,  Noam Soreni 1,  Carles Soriano-Mas 1,  Gianfranco Spalletta 1,  Emily R Stern 1,  Michael C Stevens 1,  S Evelyn Stewart 1,  Gustavo Sudre 1,  Philip R Szeszko 1,  Leanne Tamm 1,  Margot J Taylor 1,  David F Tolin 1,  Michela Tosetti 1,  Fernanda Tovar-Moll 1, CALDERONI SARA,  Aki Tsuchiyagaito 1,  Theo G M van Erp 1,  Guido A van Wingen 1,  Alasdair Vance 1,  Ganesan Venkatasubramanian 1,  Oscar Vilarroya 1,  Yolanda Vives-Gilabert 1,  Georg G von Polier 1,  Susanne Walitza 1,  Gregory L Wallace 1,  Zhen Wang 1,  Thomas Wolfers 1,  Yuliya N Yoncheva 1,  Je-Yeon Yun 1,  Marcus V Zanetti 1,  Fengfeng Zhou 1,  Georg C Ziegler 1,  Kathrin C Zierhut 1,  Marcel P Zwiers 1,  ENIGMA ADHD working group; , ENIGMA ASD working group; , ENIGMA OCD working group; , Paul M Thompson 1, muratori filippo,  Dan J Stein 1,  Jan Buitelaar 1,  Barbara Franke 1,  Odile A van den Heuvel 1 AMERICAN JOURNAL OF PSYCHIATRY 10.1176/appi.ajp.2020.19030331
Suicidal ideation and suicidal attempts in referred adolescents with high functioning autism spectrum disorder and comorbid bipolar disorder: A pilot study Masi Gabriele, Scullin S, Narzisi Antonio, Muratori Pietro, Paciello M, Fabiani D, lenzi francesca, Mucci Maria, D'acunto G Brain Sciences 10.3390/brainsci10100750
Suicidal ideation, suicidal attempts and non-suicidal self-injuries in referred adolescents [Ideazione suicidaria, tentativi di suicidio e condotte autolesive non suicidarie in adolescenza] Masi Gabriele, Lenzi Francesca, Fabiani D, Sudano SD, D¿Acunto G, Mucci Maria Rivista di Psichiatria 10.1708/3382.33573
The apple of daddy¿s eye: Parental overvaluation links the narcissistic traits of father and child Coppola G, Musso P, Buonanno C, Semeraro C, Iacobellis B, Cassibba R, Levantini Valentina, Masi Gabriele, Thomaes S, Muratori Pietro International Journal of Environmental Research and Public Health 10.3390/ijerph17155515
The challenging heterogeneity of autism: Editorial for brain sciences special issue ¿advances in autism research¿ Narzisi Antonio Brain Sciences 10.3390/brainsci10120948
The drawbacks of Information and Communication Technologies: Interplay and psychopathological risk of nomophobia and cyber-bullying, results from the bullying and youth mental health Naples study (BYMHNS) Catone G, Senese VP, Pisano S, Siciliano M, Russo K, Muratori Pietro, Marotta R, Pascotto A, Broome MR COMPUTERS IN HUMAN BEHAVIOR 10.1016/j.chb.2020.106496
The role of executive functions in the development of empathy and its association with externalizing behaviors in children with neurodevelopmental disorders and other psychiatric comorbidities Cristofani C, Sesso G, Cristofani Paola, Fantozzi Pamela, Inguaggiato Emanuela, Muratori Pietro, Narzisi Antonio, Pfanner Chiara, Pisano S, Polidori L, Ruglioni Laura, Valente E, Masi Gabriele, Milone Annarita Brain Sciences 10.3390/brainsci10080489
Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder Filosi M, Kam-Thong T, Essioux L, Muglia P, Trabetti E, Spooren W, Müller-Myshok B, Alibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi Gabriele, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi Raffaella, Tiberti A, Trabetti E, Zoccante L, Zuddas A, Domenici E, Italian Autism Network Translational Psychiatry 10.1038/s41398-020-0778-x
Virtual Histology of Cortical Thickness and Shared Neurobiology in 6 Psychiatric Disorders Patel Y, Parker N, Shin J, Howard D, CALDERONI SARA, muratori filippo, et al JAMA Psychiatry 10.1001/jamapsychiatry.2020.2694
¿Mom Let¿s Go to the Dentist!¿ Preliminary Feasibility of a Tailored Dental Intervention for Children with Autism Spectrum Disorder in the Italian Public Health Service Narzisi Antonio, Bondioli M, Pardossi F, Billeci L, Buzzi MC, Buzzi M, Pinzino M, Senette C, Semucci V, Tonacci A, Uscidda F, Vagelli B, Giuca MR, Pelagatti S Brain Sciences 10.3390/brainsci10070444
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy Quigg KH, Berggren KN, McIntyre M, Bates K, Salmin F, Casiraghi JL, D¿Amico A, ASTREA GUJA, Ricci F, McKay MJ, Baldwin JN, Burns J, Campbell C, Sansone VA, Johnson NE MUSCLE & NERVE 10.1002/mus.27147
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly Di Nottia M, Marchese MariaM, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti Claudia, Vasco G, Zeviani M, Minczuk M, Bertini E, Santorelli Filippo Maria, Carrozzo R NEUROBIOLOGY OF DISEASE 10.1016/j.nbd.2020.104880
A new paraplegin mutation in a patient with primary progressive multiple sclerosis Bellinvia A, Pastò L, Niccolai C, Tessa Alessandra, Carrai R, Martinelli C, Moretti M, Amato MP, Santorelli Filippo Maria , Sorbi S, Matà S Multiple Sclerosis and Related Disorders 10.1016/j.msard.2020.102302
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti Claudia, Rubegni Anna, Morani F, Santorelli Filippo Maria Filippo Maria FM, Bellone E, Mandich P ANNALS OF HUMAN GENETICS 10.1111/ahg.12384
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey Mancuso M, Filosto M, Lamperti C, Musumeci O, Santorelli Filippo Maria, Servidei S, Valente EM, Zeviani M, Mancardi G, Tedeschi G, Federico A NEUROLOGICAL SCIENCES 10.1007/s10072-020-04271-2
Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Pucci C, Gioi S, Caracci C, MacAluso G, DOCCINI STEFANO, Santorelli Filippo Maria, Ciofani G, Martinelli C, Battaglini M ACS Omega 10.1021/acsomega.0c01282
Distal motor neuropathy associated with novel EMILIN1 mutation Iacomino M, Doliana R, Marchese Maria, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa Alessandra, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli Filippo Maria , Zara F, Fiorillo C NEUROBIOLOGY OF DISEASE 10.1016/j.nbd.2020.104757
Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells Demontis GC, Pezzini F, Margari E, Bianchi M, Longoni B, DOCCINI STEFANO, Lalowski MM, Santorelli Filippo Maria, Simonati A Frontiers in Cellular Neuroscience 10.3389/fncel.2020.569598
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood
spots using substrates for concomitant tandem mass
spectrometry and fluorimetry
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Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca 2+ Imaging Cozzolino O, Sicca Federico , Paoli E, Trovato F, Santorelli Filippo Maria , Ratto GM, Marchese Maria Cells 10.3390/cells9030769
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso Francesca, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.61859
Expansion of the genetic landscape of ERLIN2-related disorders Srivastava, S, D¿Amore Angelica, Cohen, JS, RICCA IVANA, Santorelli Filippo Maria Annals of Clinical and Translational Neurology 10.1002/acn3.51007
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis Mancardi MM, Nesti Claudia, Febbo F, Cordani R, Siri L, Nobili L, Lampugnani E, Giacomini T, Granata T, Marucci G, Consales A, Rossi A, Luria G, Santorelli Filippo Maria , Buratti S BRAIN & DEVELOPMENT 10.1016/j.braindev.2020.12.017
Genetic modifiers of respiratory function in Duchenne muscular dystrophy Bello L, D¿Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D¿Amico A, Bertini E, ASTREA GUJA, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM, Pegoraro E, CINRG-DNHS Investigators Annals of Clinical and Translational Neurology 10.1002/acn3.51046
Genotype¿phenotype correlations in recessive titinopathies Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea Guja, Santorelli Filippo Maria , Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao C-B, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B GENETICS IN MEDICINE 10.1038/s41436-020-0914-2
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report Peluso Francesca, Palazzo V, Indolfi G, Mari F, Pasqualetti R, Procopio E, Nesti Claudia, Guerrini R, Santorelli Filippo Maria , Giglio S BMC Medical Genomics 10.1186/s12920-020-00863-1
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52 D¿Amore A, Tessa Alessandra, Naef Valentina, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo Daniele, Mero Serena, Battini Roberta, Bertocci G, Baldacci J, Sicca Federico , Gemignani F, Ricca Ivana, Rubegni Anna, Hirst J, Marchese Maria, Sahin M, Ebrahimi-Fakhari D, Santorelli Filippo Maria Annals of Clinical and Translational Neurology 10.1002/acn3.51018
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, CASSANDRINI DENISE ALESSANDRA, Grimoldi N, Conte G, Cinnante C, Santorelli Filippo Maria, Comi GP, Sciacco M, Peverelli L Molecular Genetics &amp; Genomic Medicine 10.1002/mgg3.1320
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life Battaglia D, Chieffo D, Lucibello S, Marini C, Sibilia V, Mei D, Darra F, Offredi F, Fontana E, Specchio N, Cappelletti S, Granata T, Ragona F, Patrini M, Baglietto MG, Prato G, Ferrari Anna Rita, Vigevano F, Mercuri E, Bernardina BD, Guerrini R, Dravet C, Guzzetta F BRAIN & DEVELOPMENT 10.1016/j.braindev.2020.10.004
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/ RTN4IP1 Pathogenic Variant Giacomini T, Gamucci A, Pisciotta L, NESTI CLAUDIA, Fiorillo C, DOCCINI STEFANO, Morana G, Nobili L, Santorelli Filippo Maria, Mancardi MM, De Grandis E NEUROPEDIATRICS 10.1055/s-0040-1708539
Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy Santi M, Finamore F, Cecchettini A, Santorelli Filippo Maria, DOCCINI STEFANO, Rocchiccioli S, Signore G MOLECULAR PHARMACEUTICS 10.1021/acs.molpharmaceut.0c00615
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein Cassandrini Denise, Merlini L, Pilla F, Cenni V, Santi S, Faldini C, Santorelli Filippo Maria Filippo Maria FM, Sabatelli P NEUROMUSCULAR DISORDERS 10.1016/j.nmd.2020.11.008
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy Lenge M, Marini C, Canale E, Napolitano A, De Masi S, Trivisano M, Mei D, Longo D, Rossi Espagnet MC, Lucenteforte E, PCDH19 Clinical Study Group (in appendix Ferrari Anna RitaR, Sicca Federico ), Carmen Barba, Nicola Specchio, Renzo Guerrini CEREBRAL CORTEX 10.1093/cercor/bhaa177
Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene Andreini I, Moro Francesca, Africa LM, Rubegni Anna, Santorelli Filippo Maria, Scarpini C, Sicurelli F, Battisti C Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 10.1080/21678421.2020.1740271
Safe and sound: Meta-analyzing the Mozart effect on epilepsy Sesso G, Sicca Federico CLINICAL NEUROPHYSIOLOGY 10.1016/j.clinph.2020.03.039
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study Neri M, Rossi Rebecca, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa Alessandra, ASTREA GUJA, Santorelli Filippo Maria, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A Frontiers in Genetics 10.3389/fgene.2020.00131
The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis NAEF VALENTINA, De Sarlo M, Testa G, Corsinovi D, Azzarelli R, Borello U, Ori M Frontiers in Cell and Developmental Biology 10.3389/fcell.2020.549533
Tumor suppressor role of hsa-mir-193a-3p and-5p in cutaneous melanoma Polini B, Carpi S, DOCCINI STEFANO, Citi V, Martelli A, Feola S, Santorelli Filippo Maria, Cerullo V, Romanini A, Nieri P INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms21176183
Dealing with confounders and outliers in classification medical studies: The Autism Spectrum Disorders case study Ferrari E, Bosco Paolo, CALDERONI SARA, Oliva P, Palumbo L, Spera G, Fantacci ME, Retico A ARTIFICIAL INTELLIGENCE IN MEDICINE 10.1016/j.artmed.2020.101926
MRI cortical feature of bulbar impairment in patients with amyotrophic lateral sclerosis Donatelli Graziella, Caldarazzo Ienco E, Costagli Mauroauro, Migaleddu Gianmichele, Cecchi P, Siciliano Gabriele, Cosottini M NeuroImage-Clinical 10.1016/j.nicl.2019.101934
Quantitative susceptibility mapping in atypical Parkinsonisms Mazzucchi Sonia, Frosini Daniela, Costagli Mauro, Del Prete Eleonora, Donatelli Graziella, Cecchi Paolo, Migaleddu Gianmichele, Bonuccelli Ubaldo, Ceravolo Roberto, Cosottini Mirco NeuroImage-Clinical 10.1016/j.nicl.2019.101999
Rapid three-dimensional multiparametric MRI with quantitative transient-state imaging Gómez PA, CENCINI MATTEO, Golbabaee M, Schulte RF, Pirkl C, Horvath I, Fallo G, Peretti L, TOSETTI MICHELA, Menze BH, Buonincontri Guido Scientific Reports 10.1038/s41598-020-70789-2
Repeatability and reproducibility of human brain morphometry using three-dimensional magnetic resonance fingerprinting Fujita S, Buonincontri Guido, CENCINI MATTEO, Fukunaga I, Takei N, Schulte RF, Hagiwara A, Uchida W, Hori M, Kamagata K, Abe O, Aoki S HUMAN BRAIN MAPPING 10.1002/hbm.25232
Retrospective rigid motion correction of three-dimensional magnetic resonance fingerprinting of the human brain Kurzawski JW, CENCINI MATTEO, Peretti L, Gómez PA, Schulte RF, Donatelli G, Cosottini M, Cecchi P, Costagli Mauro, Retico A, TOSETTI MICHELA, Buonincontri Guido MAGNETIC RESONANCE IN MEDICINE 10.1002/mrm.28301
Three dimensional MRF obtains highly repeatable and reproducible multi-parametric estimations in the healthy human brain at 1.5T and 3T Buonincontri Guido, Kurzawski JW, Kaggie JD, Matys T, Gallagher FA, Cencini Matteo, Donatelli G, Cecchi P, Cosottini M, Martini N, Frijia F, Montanaro D, Gómez PA, Schulte RF, Retico A, Tosetti Michela NEUROIMAGE 10.1016/j.neuroimage.2020.117573
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation De Michele G, Galatolo Daniele, Lieto M, Fico T, Saccà F, Santorelli Filippo Maria, Filla A PARKINSONISM & RELATED DISORDERS 10.1016/j.parkreldis.2020.06.001
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome Galatolo Daniele, Kuo ME, Mullen P, Meyer-Schuman R, DOCCINI STEFANO, BATTINI ROBERTA, Lieto M, Tessa Alessandra, Filla A, Francklyn C, Antonellis A, Santorelli Filippo Maria HUMAN MUTATION 10.1002/humu.24024
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study Lupo M, Olivito G, Clausi S, Siciliano L, Riso V, Bozzali M, Santorelli Filippo Maria, Silvestri G, Leggio M Frontiers in Neurology 10.3389/fneur.2020.00082
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment Roux T, Barbier M, Papin M, Davoine C-S, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergen L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A, Durr A, Stevanin G, Brice A, Darios F, Forlani S, Site P-S, Banneau G, Cazeneuve C, Charles P, Duyckaerts C, Fontaine B, Azulay J-P, Boesfplug-Tanguy O, Goizet C, Hannequin D, Hazan J, Burgo A, Verny C, Koenig M, Labauge P, Marelli C, N¿guyen K, Rodriguez D, Belarbi S, Hamri A, Tazir M, Boesch S, Pandolfo M, Laura J, Guergueltcheva V, Tournev I, Pedraza Linarès OL, Nielsen JE, Svenstrup K, Zaki M, Bauer P, Schöls L, Schüle R, Lossos A, Bassi M-T, Basso M, Bertini E, Brusco A, Casali C, Casari G, Criscuolo C, Filla A, Orsi L, Santorelli Filippo Maria , Valente EM, Vavla M, Vazza G, Megarbane A, Benomar A, Kremer B, Van Roon-Mom W, Roxburgh R, Erichsen AK, Tallaksen C, Alonso I, Coutinho P, Loureiro JL, Sequeiros J, Salih M, Kostic VS, Rouco Axpe I, Elsayed L, Paucar MA, Roumani S, Bing-Wen S, Reid E, Suran N, Warner T, Wood N, SPATAX network GENETICS IN MEDICINE 10.1038/s41436-020-0899-x
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli Filippo Maria, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M ANNALS OF NEUROLOGY 10.1002/ana.25751
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore Angelica, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump J-U, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli Filippo Maria , Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M BRAIN 10.1093/brain/awz307
Docosahexaenoic acid in ARSACS: Observations in two patients Ricca Ivana, Tessa Alessandra, Trovato Rosanna, Bacci GM, Santorelli Filippo Maria BMC Neurology 10.1186/s12883-020-01803-3
Expanding the clinical and genetic heterogeneity of SPAX5 Dosi Claudia, Galatolo Daniele, Rubegni Anna, Doccini Stefano, Pasquariello Rosa, Nesti Claudia, Sicca Federico , Barghigiani M, Battini Roberta, Tessa Alessandra, Santorelli Filippo Maria Annals of Clinical and Translational Neurology 10.1002/acn3.51024
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia Sambri I, Massa F, Gullo F, Meneghini S, Cassina L, Carraro M, Dina G, Quattrini A, Patanella L, Carissimo A, Iuliano A, Santorelli Filippo Maria , Codazzi F, Grohovaz F, Bernardi P, Becchetti A, Casari G EBioMedicine 10.1016/j.ebiom.2020.103050
Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences Guarnieri B, Maestri M, Cucchiara F, Lo Gerfo A, Schirru A, Arnaldi D, Mattioli P, Nobili F, Lombardi G, Cerroni G, Bartoli A, Manni R, Sinforiani E, Terzaghi M, Arena MG, Silvestri R, La Morgia C, DI Perri MC, Franzoni F, Tognoni G, Mancuso M, Sorbi S, Bonuccelli U, Siciliano G, Faraguna Ugo, Bonanni E JOURNAL OF ALZHEIMERS DISEASE 10.3233/JAD-200632
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations Ruggiero L, Iovino A, Dubbioso R, Cocozza S, Trovato Rosanna, Aruta F, Pontillo G, Barghigiani M, Brunetti A, Santorelli Filippo Maria , Manganelli F, Iodice R Annals of Clinical and Translational Neurology 10.1002/acn3.51221
Neuroplasticity in adult human visual cortex Castaldi E, Lunghi C, Morrone Maria Concetta NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS 10.1016/j.neubiorev.2020.02.028
Neuroplasticity of the visual cortex: in sickness and in health Baroncelli Laura, Lunghi C EXPERIMENTAL NEUROLOGY 10.1016/j.expneurol.2020.113515
Of cognition and cerebellum in SCA48 De Michele G, Salvatore E, Cocozza S, Filla A, Santorelli Filippo Maria NEUROGENETICS 10.1007/s10048-020-00603-8
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction DOCCINI STEFANO, Morani F, NESTI CLAUDIA, Pezzini F, Calza G, Soliymani R, Signore G, Rocchiccioli S, Kanninen KM, Huuskonen MT, Baumann MH, Simonati A, Lalowski MM, Santorelli Filippo Maria Cell Death Discovery 10.1038/s41420-020-0250-y
Running towards amblyopia
recovery
Sansevero Gabriele, Torelli C, Mazziotti R, Consorti A, Pizzorusso T, Berardi N & Sale A Scientific Reports 10.1038/s41598-020-69630-7
Sleep disturbances in specific learning disorders: a qualitative and quantitative investigation Pecini C, Giuntoli I, Spoglianti S, Di Lieto Maria ChiaraM, IInguaggiato Emanuela, Gasperini Filippo, Cristofani Paola, Brizzolara D, Chilosi Anna, Faraguna Ugo, Banfi T MINERVA PEDIATRICA 10.23736/S0026-4946.20.05505-X
Spinocerebellar ataxia type 48: last but not least De Michele G, Santorelli Filippo Maria NEUROLOGICAL SCIENCES 10.1007/s10072-020-04812-9
Spinocerebellar ataxia type 48: last but not least De Michele G, Galatolo Daniele, Barghigiani M, Dello Iacovo D, TROVATO ROSANNA, Tessa Alessandra, Salvatore E, Filla A, De Michele G, Santorelli Filippo Maria NEUROLOGICAL SCIENCES 10.1007/s10072-020-04408-3
The ¿crab sign¿: an imaging feature of spinocerebellar ataxia type 48 Cocozza S, Pontillo G, De Michele G, Perillo T, Guerriero E, Ugga L, Salvatore E, Galatolo Daniele, Riso V, Saccà F, Quarantelli M, Brunetti A NEURORADIOLOGY 10.1007/s00234-020-02427-7
Unbalanced Occlusion Modifies the Pattern of Brain Activity During Execution of a Finger to Thumb Motor Task Fantozzi Tramonti MP, Diciotti S, Tessa C, Castagna B, Chiesa D, Barresi M, Ravenna G, Faraguna Ugo, Vignali C, De Cicco V, Manzoni D Frontiers in Neuroscience 10.3389/fnins.2019.00499
Using psychophysical performance to predict short-term ocular dominance plasticity in human adults Steinwurzel C, Animali S, Cicchini GM, Morrone Maria Concetta, Binda P JOURNAL OF VISION 10.1167/JOV.20.7.6
Behavioural and emotional changes during covid-19 lockdown in an italian paediatric population with neurologic and psychiatric disorders Conti Eugenia, Sgandurra Giuseppina , De Nicola G, Biagioni T, Boldrini S, Bonaventura E, Buchignani B, Vecchia SD, Falcone F, Fedi C, Gazzillo M, Marinella G, Mazzullo C, Micomonaco J, Pantalone G, Salvati A, Sesso G, Simonelli V, Tolomei G, Troiano I, Cioni Giovanni, Masi Gabriele, Muratori Filippo, Milone Annarita, Battini Roberta Brain Sciences 10.3390/brainsci10120918
Moving Toward Telehealth Surveillance Services for Toddlers at Risk for Autism During the COVID-19 Pandemic Conti Eugenia, Chericoni Natasha, Costanzo Valeria, Lasala R, Mancini Alice, Prosperi Margherita, Tancredi Raffaella, Muratori Filippo, Calderoni Sara, Apicella Fabio Frontiers in Psychiatry 10.3389/fpsyt.2020.565999
The value of hospital personnel serological screening in an integrated COVID-19 infection prevention and control strategy Quattrone F, Vabanesi M, Borghini A, De Vito Giuseppe, Emdin M, Passino C INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY 10.1017/ice.2020.242
Titolo Autori Testata DOI
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data Laccetta Gianluigi, Fiori Simona, Giampietri Matteo, Ferrari Annarita, Cetica Valentina, Bernardini Manuela, Chesi Francesca, Mazzotti Sara, Parrini Elena, Ciantelli Massimiliano, Guzzetta Andrea, Ghirri Paolo Frontiers in Pediatrics 10.3389/fped.2019.00348
A new counterintuitive training for adult amblyopia Lunghi, C., Sframeli, A.T., Lepri, A., Lepri, M., Lisi, D., Sale, A., Morrone, M.C. Annals of Clinical and Translational Neurology 10.1002/acn3.698
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies Montioli Riccardo, Battini Roberta, Paiardini Alessandro, Tolve Manuela, Bertoldi Mariarita, Carducci Carla, Leuzzi Vincenzo, Borri Voltattorni Carla MOLECULAR GENETICS AND METABOLISM 10.1016/j.ymgme.2019.05.004
A novel IRF2BPL truncating variant is associated with endolysosomal storage Ginevrino Monia, Battini Roberta, Nuovo Sara, Simonati Alessandro, Micalizzi Alessia, Contaldo Ilaria, Serpieri Valentina, Valente Enza Maria MOLECULAR BIOLOGY REPORTS 10.1007/s11033-019-05109-7
Actigraph assessment for measuring upper limb activity in unilateral cerebral palsy Beani Elena, Maselli Martina, Sicola Elisa, Perazza Silvia, Cecchi Francesca, Dario Paolo, Braito Irene, Boyd Roslyn, Cioni Giovanni, Sgandurra Giuseppina Journal of NeuroEngineering and Rehabilitation 10.1186/s12984-019-0499-7
Action observation training for rehabilitation in brain injuries: a systematic review and meta-analysis Buchignani Bianca, Beani Elena, Pomeroy Valerie, Iacono Oriana, Sicola Elisa, perazza silvia, BIEBER ELEONORA, Feys Hilde, Klingels Katrijn, cioni giovanni, Sgandurra Giuseppina BMC Neurology 10.1186/s12883-019-1533-x
Age and sex prevalence estimate of Joubert syndrome in Italy JS Italian Study Group Gruppo, Nuovo Sara, Bacigalupo Ilaria, Ginevrino Monia, Battini Roberta, Bertini Enrico, Borgatti Renato, Casella Antonella, Micalizzi Alessia, Nardella Marta, Romaniello Romina, Serpieri Valentina, Zanni Ginevra, Valente Enza Maria, Vanacore Nicola NEUROLOGY 10.1212/WNL.0000000000008996
Altered Visual Plasticity in Morbidly Obese Subjects Lunghi, C., Daniele, G., Binda, P., Dardano, A., Ceccarini, G., Santini, F., Del Prato, S., Morrone, M.C. iScience 10.1016/j.isci.2019.11.027
Automated pose estimation captures key aspects of General Movements at eight to 17 weeks from conventional videos Marchi Viviana, Hakala Anna, Knight Andrew, D'Acunto Federica, Scattoni Maria Luisa, Guzzetta Andrea, Vanhatalo Sampsa ACTA PAEDIATRICA 10.1111/apa.14781
Automatic Posture and Movement Tracking of Infants with Wearable Movement Sensors Airaksinen Manu, Räsänen Okko, Ilén Elina, Häyrinen Taru, Kivi Anna, Marchi Viviana, Gallen Anastasia, Blom Sonja, Varhe Anni, Kaartinen Nico, Haataja Leena, Vanhatalo Sampsa Scientific Reports 10.1038/s41598-019-56862-5
Behavioural oscillations in visual orientation discrimination reveal distinct modulation rates for both sensitivity and response bias Zhang, H., Morrone, M.C., Alais, D. Scientific Reports 10.1038/s41598-018-37918-4
Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes Giusti Laura, Molinaro Angelo, Alessandrì Maria Grazia, Boldrini Claudia, Ciregia Federica, Lacerenza Serena, Ronci Maurizio, Urbani Andrea, Cioni Giovanni, Mazzoni Maria Rosa, Pizzorusso Tommaso, Lucacchini Antonio, Baroncelli Laura NEUROSCIENCE 10.1016/j.neuroscience.2019.03.030
Cerebral Palsy: Early Markers of Clinical Phenotype and Functional Outcome. Einspieler Christa, Bos Arend F, Krieber-Tomantschger Magdalena, Alvarado Elsa, Barbosa Vanessa M, Bertoncelli Natascia, Burger Marlette, Chorna Olena, Del Secco Sabrina, DeRegnier Raye-Ann, Hüning Britta, Ko Jooyeon, Lucaccioni Laura, Maeda Tomoki, Marchi Viviana, Martín Erika, Morgan Catherine, Mutlu Akmer, Nogolová Alice, Pansy Jasmin, Peyton Colleen, Pokorny Florian B, Prinsloo Lucia R, Ricci Eileen, Saini Lokesh, Scheuchenegger Anna, Silva Cinthia R D, Soloveichick Marina, Spittle Alicia J, Toldo Moreno, Utsch Fabiana, van Zyl Jeanetta, Viñals Carlos, Wang Jun, Yang Hong, Yard¿mc¿-Lokmano¿lu Bilge N, Cioni Giovanni, Ferrari Fabrizio, Guzzetta Andrea, Marschik Peter B Journal of Clinical Medicine 10.3390/jcm8101616
Development of hand function during the first year of life in children with unilateral cerebral palsy Sakzewski Leanne, Sicola Elisa, Verhage Cornelia H., Sgandurra Giuseppina, Eliasson Ann Christin DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.14091
Different reaction-times for subitizing, estimation, and texture Pomè Antonella, Anobile Giovanni, Cicchini Guido Marco, Burr David Charles JOURNAL OF VISION 10.1167/19.6.14
Early motor signs of attention-deficit hyperactivity disorder: a systematic review. Athanasiadou A., Buitelaar J. K., Brovedani P., Chorna O., Fulceri F., Guzzetta A., Scattoni Maria Luisa EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 10.1007/s00787-019-01298-5
Early neurodevelopmental characterization in children with cobalamin C/defect Ricci Daniela, Martinelli Diego, Ferrantini Gloria, Lucibello Simona, Gambardella MLuigia, Olivieri Giorgia, Chieffo Daniela, Battaglia Domenica, Diodato Daria, Iarossi Giancarlo, Donati Alice M., Dionisi-Vici Carlo, Battini Roberta JOURNAL OF INHERITED METABOLIC DISEASE 10.1002/jimd.12171
Effects of sleep deprivation on surgeons dexterity Banfi, T., Coletto, E., D'Ascanio, P., Dario, P., Menciassi, A., Faraguna, U., Ciuti, G. Frontiers in Neurology 10.3389/fneur.2019.00595
Effects on parental stress of early home-based caretoy intervention in low-risk preterm infants Sgandurra Giuseppina, Beani Elena, Inguaggiato Emanuela, Lorentzen Jakob, Nielsen Jens Bo, Cioni Giovanni NEURAL PLASTICITY 10.1155/2019/7517351
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function Rice Gillian I., Park Sehoon, Gavazzi Francesco, Adang Laura A., Ayuk Loveline A., Van Eyck Lien, Seabra Luis, Barrea Christophe, Battini Roberta, Belot Alexandre, Berg Stefan, Billette de Villemeur Thierry, Bley Annette E., Blumkin Lubov, Boespflug-Tanguy Odile, Briggs Tracy A., Brimble Elise, Dale Russell C., Darin Niklas, Debray François Guillaume, De Giorgis Valentina, Denecke Jonas, Doummar Diane, Drake af Hagelsrum Gunilla, Eleftheriou Despina, Estienne Margherita, Fazzi Elisa, Feillet François, Galli Jessica, Hartog Nicholas, Harvengt Julie, Heron Bénédicte, Heron Delphine, Kelly Diedre A., Lev Dorit, Levrat Virginie, Livingston John H., Marti Itxaso, Mignot Cyril, Mochel Fanny, Nougues Marie Christine, Oppermann Ilena, Pérez-Dueñas Belén, Popp Bernt, Rodero Mathieu P., Rodriguez Diana, Saletti Veronica, Sharpe Cia, Tonduti Davide, Orcesi Simona HUMAN MUTATION 10.1002/humu.23975
Hand Assessment for Infants: normative reference values. Ek Linda, Eliasson Ann Christin, Sicola Elisa, Sjöstrand Lena, Guzzetta Andrea, Sgandurra Giuseppina, Cioni Giovanni, Krumlinde-Sundholm Lena DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.14163
Heart rate variability at bedtime predicts subsequent sleep features Fantozzi, M.P.T., Artoni, F., Faraguna, U. Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS 10.1109/EMBC.2019.8857844
Higher attentional costs for numerosity estimation at high densities Pomè Antonella, Anobile Giovanni, Cicchini Guido Marco, Scabia Aurora, Burr David Charles Attention Perception & Psychophysics 10.3758/s13414-019-01831-3
Improving Executive Functions at School in Children With Special Needs by Educational Robotics Di Lieto Maria Chiara, Castro Emanuela, Pecini Chiara, Inguaggiato Emanuela, Cecchi Francesca, Dario Paolo, Cioni Giovanni, Sgandurra Giuseppina Frontiers in Psychology 10.3389/fpsyg.2019.02813
Inhibition of Semaphorin3A Promotes Ocular Dominance Plasticity in the Adult Rat Visual Cortex Boggio Elena Maria, Ehlert Erich M., Lupori Leonardo, Moloney Elizabeth B., De Winter Fred, Vander Kooi Craig W., Baroncelli Laura, Mecollari Vasilis, Blits Bas, Fawcett James W., Verhaagen Joost, Pizzorusso Tommaso MOLECULAR NEUROBIOLOGY 10.1007/s12035-019-1499-0
Intranasal oxytocin enhances EEG mu rhythm desynchronization during execution and observation of social action: An exploratory study. Festante Fabrizia, Ferrari PF, Thorpe SG, Buchanan RW, Fox NA PSYCHONEUROENDOCRINOLOGY 10.1016/j.psyneuen.2019.104467
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 Brogna C., Coratti G., Pane M., Ricotti V., Messina S., D¿Amico A., Bruno C., Vita G., Berardinelli A., Mazzone E., Magri F., Ricci F., Mongini T., Battini R., Bello L., Pegoraro E., Baranello G., Previtali S.C., Politano L., Comi G.P., Sansone V.A., Donati A., Bertini E., Muntoni F., Goemans N., Mercuri E. PLoS One 10.1371/journal.pone.0218683
Methods to assess usability and acceptability of technologies for home-based rehabilitation a systematic review Sgherri Giuseppina, Avola M., Beani E., Chisari C., Cioni G., Sgandurra G. International Journal on Emerging Technologies
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D’Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Journal of Clinical Medicine 10.3390/jcm8050750
Morphosyntactic weaknesses in Developmental Language Disorder Moscati Vincenzo, Rizzi Luigi, Vottari Ilenia, Chilosi Anna Maria, Salvadorini Renata, Guasti Maria Teresa JOURNAL OF CHILD LANGUAGE 10.1017/S0305000919000709
Movement analysis in early infancy Marchi V., Belmonti V., Cecchi F., Coluccini M., Ghirri P., Grassi A., Sabatini A. M., Guzzetta A. EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2019.104942
Near optimal encoding of numerosity in typical and dyscalculic development Anobile Giovanni, Burr David C., Gasperini Filippo, Cicchini Guido Marco CORTEX 10.1016/j.cortex.2019.07.009
Neural Plasticity after Congenital Brain Lesions Fiori Simona, Staudt Martin, Boyd Roslyn N., Guzzetta Andrea NEURAL PLASTICITY 10.1155/2019/9154282
Neuroprocessing mechanisms of music during fetal and neonatal development Chorna O., Filippa M., Sa De Almeida J., Lordier L., Monaci M. G., Hüppi P., Grandjean D., Guzzetta A. NEURAL PLASTICITY 10.1155/2019/3972918
Parent-Infant Interaction during the First Year of Life in Infants at High Risk for Cerebral Palsy: A Systematic Review of the Literature. Festante F., Antonelli C., Chorna O., Corsi G., Guzzetta A. NEURAL PLASTICITY 10.1155/2019/5759694
Plasticity of the human visual brain after an early cortical lesion Mikellidou, K., Arrighi, R., Aghakhanyan, G., Tinelli, F., Frijia, F., Crespi, S., De Masi, F., Montanaro, D., Morrone, M.C. Neuropsychologia 10.1016/j.neuropsychologia.2017.10.033
Possible Effect of the Trigeminal Nerve Stimulation on Auditory Event-Related Potentials Tramonti Fantozzi, M.P., Artoni, F., Di Galante, M., Briscese, L., De Cicco, V., Manzoni, D., Banfi, T., Micera, S., Faraguna, U., Carboncini, M.C. Biosystems and Biorobotics 10.1007/978-3-030-01845-0_169
Preservation of Visual Cortex Plasticity in Retinitis Pigmentosa Begenisic Tatjana, Mazziotti Raffaele, Sagona Giulia, Lupori Leonardo, Sale Alessandro, Galli Lucia, Baroncelli Laura NEUROSCIENCE 10.1016/j.neuroscience.2019.10.045
Randomized controlled trial combining constraint-induced movement therapy and action-observation training in unilateral cerebral palsy: clinical effects and influencing factors of treatment response. Simon-Martinez Cristina, Mailleux Lisa, Hoskens Jasmine, Ortibus Els, Jaspers Ellen, Wenderoth Nicole, Sgandurra Giuseppina, Cioni Giovanni, Molenaers Guy, Klingels Katrijn, Feys Hilde Therapeutic Advances in Neurological Disorders 10.1177/1756286419898065
Residual visual responses in patients with retinitis pigmentosa revealed by functional magnetic resonance imaging Castaldi, E., Cicchini, G.M., Falsini, B., Binda, P., Morrone, M.C. Translational Vision Science and Technology 10.1167/tvst.8.6.44
Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder Lupori Leonardo, Sagona Giulia, Fuchs Claudia, Mazziotti Raffaele, Stefanov Antonia, Putignano Elena, Napoli Debora, Strettoi Enrica, Ciani Elisabetta, Pizzorusso Tommaso HUMAN MOLECULAR GENETICS 10.1093/hmg/ddz102
Spontaneous perception of numerosity in pre-school children Anobile G., Guerrini G., Burr D. C., Monti M., Del Lucchese B., Cicchini G. M. PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES 10.1098/rspb.2019.1245
The common rhythm of action and perception Benedetto, A., Morrone, M.C., Tomassini, A. Journal of Cognitive Neuroscience 10.1162/jocn_a_01436
The Complexity of Dreams: A Multiscale Entropy Study on Cardiovascular Variability Series Nardelli, M., Faraguna, U., Grandi, G., Bruno, R.M., Valenza, G., Scilingo, E.P. Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS 10.1109/EMBC.2019.8857120
The Pooled Diagnostic Accuracy of Neuroimaging, General Movements, and Neurological Examination for Diagnosing Cerebral Palsy Early in High-Risk Infants: A Case Control Study. Morgan Catherine, Romeo Domenico M, Chorna Olena, Novak Iona, Galea Claire, Del Secco Sabrina, Guzzetta Andrea Journal of Clinical Medicine 10.3390/jcm8111879
The Role of the Social Environment on Adaptive Neuroplasticity in Early Development. Guzzetta A., Murray L., Montirosso R., Ferrari P.F. NEURAL PLASTICITY 10.1155/2019/5375849
Three-systems for visual numerosity Anobile G., Tomaiuolo F., Campana S., Cicchini G. M. NEUROPSYCHOLOGIA 10.1016/j.neuropsychologia.2019.107259
Training RAN or reading? A telerehabilitation study on developmental dyslexia. Pecini C., Spoglianti S., Bonetti S., Di Lieto M.C., Guaran F., Martinelli A., Gasperini F., Cristofani P., Casalini C., Mazzotti S., Salvadorini R., Bargagna S., Palladino P., Cismondo D., Verga A., Zorzi C., Brizzolara D., Vio C., Chilosi A.M. DYSLEXIA 10.1002/dys.1619
Transcranial direct current stimulation (tDCS) in unilateral cerebral palsy Inguaggiato Emanuela, Bolognini Nadia, Fiori Simona, Cioni Giovanni NEURAL PLASTICITY 10.1155/2019/2184398
Unbalanced occlusion modifies the pattern of brain activity during execution of a finger to thumb motor task Fantozzi, M.P.T., Diciotti, S., Tessa, C., Castagna, B., Chiesa, D., Barresi, M., Ravenna, G., Faraguna, U., Vignali, C., De Cicco, V., Manzoni, D. Frontiers in Neuroscience 10.3389/fnins.2019.00499
Understanding Discomfort in Order to Appropriately Treat Fever. Doria Mattia, Careddu Domenico, Ceschin Flavia, Libranti Maria, Pierattelli Monica, Perelli Valentina, Laterza Claudia, Chieti Annarita, Chiappini Elena International Journal of Environmental Research and Public Health 10.3390/ijerph16224487
Visual assessment in Down Syndrome Purpura Giulia, Bacci Giacomo Maria, Bargagna Stefania, Cioni Giovanni, Caputo Roberto, Tinelli Francesca EARLY HUMAN DEVELOPMENT 10.1016/j.earlhumdev.2019.01.020
Visual cortical plasticity in retinitis pigmentosa Lunghi, C., Galli-Resta, L., Binda, P., Cicchini, G.M., Placidi, G., Falsini, B., Morrone, M.C. Investigative Ophthalmology and Visual Science 10.1167/iovs.18-25750
Visual Function Classification System for children with cerebral palsy: development and validation. Baranello G., Signorini S., Tinelli Francesca, Guzzetta Andrea, Pagliano E., Rossi A., Foscan M., Tramacere I., Romeo D.M.M., Ricci D., Zanin R., Fazzi E., cioni giovanni, Mercuri E., Group On Behalf of the VFCS Study DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 10.1111/dmcn.14270
Visuo-haptic transfer for object recognition in children with periventricular leukomalacia and bilateral cerebral palsy Purpura Giulia, Perazza Silvia, Cioni Giovanni, Tinelli Francesca CHILD NEUROPSYCHOLOGY 10.1080/09297049.2019.1602599
Which linguistic measures distinguish transient from persistent language problems in Late Talkers from 2 to 4 years? A study on Italian speaking children chilosi anna, Pfanner Lucia, Pecini C., Salvadorini Renata, Casalini Claudia, Brizzolara D., Cipriani P. 10.1016/j.ridd.2019.03.005
A novel IRF2BPL truncating variant is responsible for infantile neuronal ceroid lipofuscinosis-like phenotype Ginevrino, M.; Battini, R.; Nuovo, S.; Micalizzi, A.; Simonati, A.; Contaldo, I.; Valente, E. M. EUROPEAN JOURNAL OF HUMAN GENETICS
Expanding the phenotypic spectrum associated to PMPCA mutations Serpieri, V.; Battini, R.; Nuovo, S.; Ginevrino, M.; Tinelli, F.; Valente, E. EUROPEAN JOURNAL OF HUMAN GENETICS
Gating-affecting mutations in KCNK4 cause a recognizable neurodevelopmental syndrome Radio, F. C.; Calligari, P.; Caputo, V.; Dentici, M. L.; Falah, N.; High, F.; Pantaleoni, F.; Barresi, S.; Ciolfi, A.; Pizzi, S.; Bruselles, A.; Person, R.; Richards, S.; Cho, M. T.; Sepulveda, D. J. Claps; Pro, S.; Battini, R.; Zampino, G.; Digilio, M. C.; Bocchinfuso, G.; Dallapiccola, B.; Stella, L.; Bauer, C. K.; Tartaglia, M. EUROPEAN JOURNAL OF HUMAN GENETICS
Effects of occlusal rebalancing on cognitive performance Fantozzi, Tramonti M. P.; De Cicco, V; Diciotti, S.; Tessa, C.; Vignali, C.; Barresi, M.; Cataldo, E.; Bruschini, L.; Faraguna, U.; Manzoni, D. ACTA PHYSIOLOGICA
Pupillometry Reveals Perceptual Differences That Are Tightly Linked to Autistic Traits in Typical Adults: A No-Report Paradigm Based on Stereopsis Tortelli, Chiara; Turi, Marco; Burr, David Charles; Binda, Paola PERCEPTION
Interindividual Variability of Short-Term Ocular Dominance Plasticity in Human Adults Steinwurzel, Cecilia; Animali, Silvia; Morrone, Maria Concetta; Binda, Paola PERCEPTION
Assessment of genome-wide burden of rare genic CNVs in posterior fossa malformations Nuovo, S.; Cesario, C.; Bernardini, L.; Battini, R.; Arrigoni, F.; Romaniello, R.; Zanni, G.; Del Giudice, E.; Vitiello, G.; Borgatti, R.; Bertini, E.; Valente, E. EUROPEAN JOURNAL OF HUMAN GENETICS
RECLAIM-DCP: A Randomized, Double Blind, Placebo-Controlled Study of Deutetrabenazine for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Claassen, Daniel; Mink, Jonathan; Parnes, Mered; Gordon, Mark; Barkay, Hadas; Wieman, Maria; Savola, Juha-Matti; Battini, Roberta; Jankovic, Joseph; Dure, Leon NEUROLOGY
Short-Term Plasticity of 7T BOLD Ocular Dominance in Adult Human Primary Visual Cortex Kurzawski, Jan W.; Binda, Paola; Lunghi, Claudia; Biagi, Laura; Tosetti, Michela; Morrone, Maria Concetta PERCEPTION
Evidence for the Existence of Three Regimes of Number Perception Pome, Antonella; Anobile, Giovanni; Scabia, Aurora; Cicchini, Guido Marco; Burr, David PERCEPTION
Bilateral Visual Field Maps in a Patient With Left Eye Microphthalmia and Massive Congenital Brain Damage Involving the Left Geniculostriate Pathway: A Case Study Bhat, Akshatha; Kurzawski, Jan W.; Anobile, Giovanni; Tinelli, Francesca; Biagi, Laura; Morrone, Maria Concetta PERCEPTION
Spatial but Not Temporal Numerosity Thresholds Correlate With Formal Math Skills in Children Moscoso, Paula Andrea Maldonado; Anobile, Giovanni; Arrighi, Roberto; Castaldi, Elisa; Grassi, Eleonora; Pedonese, Lara; Burr, David PERCEPTION
Measuring the Numerosity Perceptual Field Togoli, Irene; Anobile, Giovanni; Domenici, Nicola; Burr, David; Arrighi, Roberto PERCEPTION
Distortions of Perceived Duration of Visual Stimuli Induced by Adaptation to Tapping Movements Arrighi, Roberto; Domenici, Nicola; Anobile, Giovanni; Togoli, Irene; Burr, David PERCEPTION
Spontaneous Perception of Numerosity in Children and Adults Burr, David; Cicchini, Giudo Marco; Anobile, Giovanni PERCEPTION
Noisier but Still Flexible: Typical Numerosity Adaptation Despite Selectively Impaired Number Acuity in Dyscalculia Anobile, Giovanni; Gasperini, Filippo; Cicchini, Guido Marco; Burr, David PERCEPTION
Area Prostriata in the Human Brain Mikellidou, Kyriaki; Kurzawski, Jan W.; Frijia, Francesca; Montanaro, Domenico; Burr, David; Morrone, Maria Concetta PERCEPTION
Pupillometry Reveals Perceptual Differences That Are Tightly Linked to Autistic Traits in Typical Adults Binda, Paola; Turi, Marco; Burr, David PERCEPTION
Short-term deprivation of the amblyopic eye, combined with physical exercise, promotes long-term visual recovery in young amblyopic children Fresina, Michela; Lunghi, Claudia; Fariselli, Chiara; Sale, Alessandro; Morrone, Maria Concetta; Campos, Emilio C. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Visual Search Abilities in School-Age Children Tinelli F, Pecini C, Mazzotti S, Guzzetta A, Bertini C and Cioni G Psychology and Behavioral Science International Journal
Adolescent selfie: an Italian Society of Paediatrics survey of the lifestyle of teenagers Smorti Martina, Milone Annarita, Gonzalez Gonzalez José, Vitali Rosati Giovanni Italian Journal of Pediatrics 10.1186/s13052-019-0653-7
Are early visual behavior impairments involved in the onset of autism spectrum disorders? Insights for early diagnosis and intervention Apicella Fabio, Costanzo Valeria, Purpura Giulia EUROPEAN JOURNAL OF PEDIATRICS 10.1007/s00431-019-03562-x
Autism as a disruption of affective contact: The forgotten role of George Frankl Muratori Filippo, Bizzari Valeria Clinical Neuropsychiatry
Autistic traits impact on olfactory processing in adolescent girls with Anorexia Nervosa restricting type Tonacci Alessandro, Calderoni Sara, Billeci Lucia, Maestro Sandra, Fantozzi Pamela, Ciuccoli Federica, Morales Maria Aurora, Narzisi Antonio, Muratori Filippo PSYCHIATRY RESEARCH 10.1016/j.psychres.2019.02.026
Autonomic nervous system response during light physical activity in adolescents with anorexia nervosa measured by wearable devices Billeci Lucia, Tonacci Alessandro, Brunori Elena, Raso Rossella, Calderoni Sara, Maestro Sandra, Morales Maria Aurora SENSORS 10.3390/s19122820
Brain Network Organization Correlates with Autistic Features in Preschoolers with Autism Spectrum Disorders and in Their Fathers Billeci Lucia, Calderoni Sara, Conti Eugenia, Lagomarsini Alessia, Narzisi Antonio, Gesi Camilla, Carmassi Claudia, Dell'Osso Liliana, Cioni Giovanni, Muratori Filippo, Guzzetta Andrea Journal of Clinical Medicine 10.3390/jcm8040487
Contextual priors do not modulate action prediction in children with autism. Amoruso L., Narzisi A., Pinzino M., Finisguerra A., Billeci L., Calderoni S., Fabbro F., Muratori F., Volzone A., Urgesi C. PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES 10.1098/rspb.2019.1319
Coping Power Universal for middle school students: The first efficacy study Muratori Pietro, Bertacchi Iacopo, Catone Gennaro, Mannucci Francesca, Nocentini Annalaura, Pisano Simone, Lochman John E. JOURNAL OF ADOLESCENCE 10.1016/j.adolescence.2019.12.014
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes Sinibaldi L., Parisi V., Lanciotti S., Fontana P., Kuechler A., Baujat G., Torres B., Koetting J., Splendiani A., Postorivo D., Beygo J., Garaci F.G., Malan V., Lüdecke H.-J., Guida V., Krumbiegel M., Lonardo F., Novelli A., Albrecht B., Perria C., Scarano G., Spielmann M., Nardone A.M., Battaglia A., Brancati F., Bernardini L. CLINICAL GENETICS 10.1111/cge.13565
Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives. Bejarano-Martín Álvaro, Canal-Bedia Ricardo, Magán-Maganto María, Fernández-Álvarez Clara, Cilleros-Martín María Victoria, Sánchez-Gómez María Cruz, García-Primo Patricia, Rose-Sweeney Mary, Boilson Andrew, Linertová Renata, Roeyers Herbert, Van der Paelt Sara, Schendel Diana, Warberg Christine, Cramer Susanne, Narzisi Antonio, Muratori Filippo, Moilanen Irma, Yliherva Anneli, Saemundsen Evald, Loa Jónsdóttir Sigríður, Efrim-Budisteanu Magdalena, Arghir Aurora, Papuc Sorina Mihaela, Vicente Astrid, Rasga Celia, Rogé Bernadette, Guillon Quentin, Baduel Sophie, Kafka Johanna Xenia, Poustka Luise, Kothgassner Oswald D., Kawa Rafal, Pisula Ewa, Sellers Tracey, Posada de la Paz Manuel JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 10.1007/s10803-019-04253-0
Effects of a universal prevention program on externalizing behaviors: Exploring the generalizability of findings across school and home settings. Muratori Pietro, Bertacchi Iacopo, Masi Gabriele, Milone Annarita, Nocentini Annalaura, Powell Nicole P., Lochman John E., Jones Shannon, Kassing Francesca, Romero Devon JOURNAL OF SCHOOL PSYCHOLOGY 10.1016/j.jsp.2019.09.002
Effects of melatonin in children with attentiondeficit/ hyperactivity disorder with sleep disorders after methylphenidate treatment Masi Gabriele, Fantozzi Pamela, Villafranca Arianna, Tacchi Annalisa, Ricci Federica, Ruglioni Laura, Inguaggiato Emanuela, Pfanner Chiara, Cortese Samuele Neuropsychiatric Disease and Treatment 10.2147/NDT.S193891
Empathy in Youths with Conduct Disorder and Callous-Unemotional Traits. Milone Annarita, Cerniglia Luca, Cristofani Chiara, Inguaggiato Emanuela, Levantini Valentina, Masi Gabriele, Paciello Marinella, Simone Francesca, Muratori Pietro NEURAL PLASTICITY 10.1155/2019/9638973
Evaluation of altered functional connections in male children with autism spectrum disorders on multiple-site data optimized with machine learning Spera Giovanna, Retico Alessandra, Bosco Paolo, Ferrari Elisa, Palumbo Letizia, Oliva Piernicola, Muratori Filippo, Calderoni Sara Frontiers in Psychiatry 10.3389/fpsyt.2019.00620
How Attention to Faces and Objects Changes Over Time in Toddlers with Autism Spectrum Disorders: Preliminary Evidence from An Eye Tracking Study. Muratori Filippo, Billeci Lucia, Calderoni Sara, Boncoddo Maria, Lattarulo Caterina, Costanzo Valeria, Turi Marco, Colombi Costanza, Narzisi Antonio Brain Sciences 10.3390/brainsci9120344
Inflammatory biomarkers are correlated with some forms of regressive autism spectrum disorder Prosperi Margherita, Guiducci Letizia, Peroni Diego G., Narducci Chiara, Gaggini Melania, Calderoni Sara, Tancredi Raffaella, Morales Maria Aurora, Gastaldelli Amalia, muratori filippo, Santocchi Elisa Brain Sciences 10.3390/brainsci9120366
Inflammatory Cytokines in Children and Adolescents with Depressive Disorders: A Systematic Review and Meta-Analysis. D'Acunto Maria Giulia, Nageye Fatuma, Zhang Junhua, Masi Gabriele, Cortese Samuele JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY 10.1089/cap.2019.0015
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. Nevado Julián, Wolf-Hirschhorn Spain's Working Group Gruppo, Ho Karen S., Zollino Marcella, Blanco Raquel, Cobaleda César, Golzio Christelle, Beaudry-Bellefeuille Isabelle, Berrocoso Sarah, Limeres Jacobo, Barrúz Pilar, Serrano-Martín Candela, Cafiero Concetta, Málaga Ignacio, Marangi Giuseppe, Campos-Sánchez Elena, Moriyón-Iglesias Tania, Márquez Sorangui, Markham Leah, Twede Hope, Lortz Amanda, Olson Lenora, Sheng Xiaoming, Weng Cindy, Wassman Edward Robert, Newcomb Tara, Wassman Edward Robert, Carey John C., Battaglia Agatino, López-Granados Eduardo, Douglas Damien, Lapunzina Pablo AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.61406
La dimensión musical en la relación analítica: El rol de la improvisación Gabbriellini Gabriela, Luperini Arianna, Tancredi Raffaella Rivista di Psicoanalisi 10.26364/RPSA20190650029
Linking Sleep to Externalizing Behavioral Difficulties Muratori Pietro, Menicucci Danilo, Lai Elisa, Battaglia Floriana, Bontempelli Lucio, Chericoni Natasha, Gemignani Angelo Journal of Primary Prevention 10.1007/s10935-019-00547-2
Microbiota-gut brain axis involvement in neuropsychiatric disorders Iannone Luigi Francesco, Preda Alberto, Blottière Hervé M., Clarke Gerard, Albani Diego, Belcastro Vincenzo, Carotenuto Marco, Cattaneo Annamaria, Citraro Rita, Ferraris Cinzia, Ronchi Francesca, Luongo Gaia, Santocchi Elisa, Guiducci Letizia, Baldelli Pietro, Iannetti Paola, Pedersen Sigrid, Petretto Andrea, Provasi Stefania, Selmer Kaja, Spalice Alberto, Tagliabue Anna, Verrotti Alberto, Segata Nicola, Zimmermann Jakob, Minetti Carlo, Mainardi Paolo, Giordano Carmen, Sisodiya Sanjay, Zara Federico, Russo Emilio, Striano Pasquale Expert Review of Neurotherapeutics 10.1080/14737175.2019.1638763
Outcomes and moderators of Early Start Denver Model intervention in young children with autism spectrum disorder delivered in a mixed individual and group setting. Contaldo Annarita, Colombi Costanza, Pierotti Caterina, Masoni Patrizia, Muratori Filippo AUTISM 10.1177/1362361319888344
Parental perspectives on psychiatric comorbidity in preschoolers with autism spectrum disorders receiving publicly funded mental health services Muratori Filippo, Turi Marco, Prosperi Margherita, Narzisi Antonio, Valeri Giovanni, Guerrera Silvia, Santocchi Elisa, Apicella Fabio, Lattarulo Caterina, Calderoni Sara, Vicari Stefano Frontiers in Psychiatry 10.3389/fpsyt.2019.00107
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy Carter Lauren B., Battaglia Agatino, Cherry Athena, Manning Melanie A., Ruzhnikov Maura R.Z., Bird Lynne M., Dowsett Leah, Graham John M., Alkuraya Fowzan S., Hashem Mais, Dinulos Mary Beth, Vallee Stephanie, Adam Margaret P., Glass Ian, Beck Anita E., Stevens Cathy A., Zackai Elaine, McDougall Carey, Keena Beth, Peron Angela, Vignoli Aglaia, Seaver Laurie H., Slavin Thomas P., Hudgins Louanne AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.61266
Psychometric properties, factor structure and cross-cultural validity of the quantitative CHecklist for autism in toddlers (Q-CHAT) in an Italian community setting Ruta L, Arduino GM, Gagliano A, Apicella Fabio, Leonardi E, Famà FL, Chericoni Natasha, Costanzo Valeria, Turco N, Tartariscol G, Allison C, Cohen SG, Pioggia G, Chiarotti F, muratori filippo Research in Autism Spectrum Disorders 10.1016/j.rasd.2019.04.004
Putative mechanisms of action and clinical use of lithium in children and adolescents: A critical review Pisano S., Pozzi M., Catone G., Scrinzi G., Clementi E., Coppola G., Milone A., Bravaccio C., Santosh P., Masi G. Current Neuropharmacology 10.2174/1570159X16666171219142120
Recommendations for the pharmacological management of irritability and aggression in conduct disorder patients Pisano Simone, Masi Gabriele EXPERT OPINION ON PHARMACOTHERAPY 10.1080/14656566.2019.1685498
Sleep Disorders in Children and Adolescents with Autism Spectrum Disorder: Diagnosis, Epidemiology, and Management Cortese S, Wang F, Angriman M, Masi Gabriele, Bruni O CNS DRUGS 10.1007/s40263-020-00710-y
Sympathetic arousal in children with oppositional defiant disorder and its relation to emotional dysregulation. Tonacci Alessandro, Billeci Lucia, Calderoni Sara, Levantini Valentina, Masi Gabriele, Milone Annarita, Pisano Simone, Muratori Pietro JOURNAL OF AFFECTIVE DISORDERS 10.1016/j.jad.2019.07.046
The broad autism phenotype in real-life: clinical and functional correlates of autism spectrum symptoms and rumination among parents of patients with autism spectrum disorder. Carpita Barbara, Carmassi Claudia, Calderoni Sara, Muti Dario, Muscarella Alessia, Massimetti Gabriele, Cremone Ivan M., Gesi Camilla, Conti Eugenia, Muratori Filippo, Dell'Osso Liliana CNS SPECTRUMS 10.1017/S1092852919001615
Universal Coping Power for pre-schoolers: Effects on children's behavioral difficulties and pre-academic skills Muratori Pietro, Lochman John E., Bertacchi Iacopo, Giuli Consuelo, Guarguagli Elena, Pisano Simone, Gallani Anna, Mammarella Irene C. SCHOOL PSYCHOLOGY INTERNATIONAL 10.1177/0143034318814587
Validation of the Quantitative Checklist for Autism in Toddlers in an Italian Clinical Sample of Young Children With Autism and Other Developmental Disorders. Ruta Liliana, Chiarotti Flavia, Arduino Giuseppe M., Apicella Fabio, Leonardi Elisa, Maggio Roberta, Carrozza Cristina, Chericoni Natasha, Costanzo Valeria, Turco Nazarena, Tartarisco Gennaro, Gagliano Antonella, Allison Carrie, Baron-Cohen Simon, Pioggia Giovanni, Muratori Filippo Frontiers in Psychiatry 10.3389/fpsyt.2019.00488
Vocal and motor behaviors as a possible expression of gastrointestinal problems in preschoolers with Autism Spectrum Disorder Prosperi Margherita, Santocchi Elisa, Muratori Filippo, Narducci Chiara, Calderoni Sara, Tancredi Raffaella, Morales Maria Aurora, Guiducci Letizia BMC Pediatrics 10.1186/s12887-019-1841-8
Sensorized toys to identify the early ‘Red Flags’ of autistic spectrum disorders in preschoolers Lanini M, Bondioli M, Narzisi A, Pelagatti S, Chessa S ADVANCES IN INTELLINGENT SYSTEMS AND COMPUTING
Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets Postema Merel C., van Rooij Daan, Anagnostou Evdokia, Arango Celso, Auzias Guillaume, Behrmann Marlene, Filho Geraldo Busatto, Calderoni Sara, Calvo Rosa, Daly Eileen, Deruelle Christine, Di Martino Adriana, Dinstein Ilan, Duran Fabio Luis S., Durston Sarah, Ecker Christine, Ehrlich Stefan, Fair Damien, Fedor Jennifer, Feng Xin, Fitzgerald Jackie, Floris Dorothea L., Freitag Christine M., Gallagher Louise, Glahn David C., Gori Ilaria, Haar Shlomi, Hoekstra Liesbeth, Jahanshad Neda, Jalbrzikowski Maria, Janssen Joost, King Joseph A., Kong Xiang Zhen, Lazaro Luisa, Lerch Jason P., Luna Beatriz, Martinho Mauricio M., McGrath Jane, Medland Sarah E., Muratori Filippo, Murphy Clodagh M., Murphy Declan G.M., O¿Hearn Kirsten, Oranje Bob, Parellada Mara, Puig Olga, Retico Alessandra, Rosa Pedro, Rubia Katya, Tosetti Michela Nature Communications 10.1038/s41467-019-13005-8
Efficacy study of an omega-3/6 combination for mild-to moderate inattentive ADHD: A randomized, double-blind, placebo-controlled trial in italian children. Carucci S, Romaniello R, Balia, C , Demuru, G , Curatolo, P , Mereu, A , Masi, , Gabriele; Gagliano, A , Zuddas, A Journal of the American Academy of Child and Adolescent Psychiatry, Conference: 66th Annual Meeting of the American-Academy-of-Child-and-Adolescent-Psychiatry (AACAP) DOI: 10.1016/j.jaac.2019.08.43
A novel approach to gene analysis Calderisi Marco, Ceppa Ilaria, Cassandrini Denise, Trovato Rosanna, Bertocci Giulia, Tonacci Alessandro, Astrea Guja, Conte Raffaele, Santorelli Filippo M. HEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019. Moucek, R., Fred, A. & Gamboa, H. (eds.). SciTePress,
A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family Piccinelli S.C., Bassi M.T., Citterio A., Manganelli F., Tozza S., Santorelli F.M., Cassarino S.G., Caria F., Baldelli E., Galvagni A., Santoro L., Padovani A., Filosto M. Frontiers in Neurology 10.3389/fneur.2019.00580
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking Behne Robert, Teinert Julian, Wimmer Miriam, D'Amore Angelica, Davies Alexandra K, Scarrott Joseph M, Eberhardt Kathrin, Brechmann Barbara, Chen Ivy Pin-Fang, Buttermore Elizabeth D, Barrett Lee, Dwyer Sean, Chen Teresa, Hirst Jennifer, Wiesener Antje, Segal Devorah, Martinuzzi Andrea, Duarte Sofia T, Bennett James T, Bourinaris Thomas, Houlden Henry, Roubertie Agathe, Santorelli Filippo M, Robinson Margaret, Azzouz Mimoun, Lipton Jonathan O, Borner Georg H H, Sahin Mustafa, Ebrahimi-Fakhari Darius HUMAN MOLECULAR GENETICS 10.1093/hmg/ddz310
Automatic detection and sonification of nonmotor generalized onset epileptic seizures: Preliminary results Frassineti, L., Barba, C., Melani, F., Piras, F., Guerrini, R., Manfredi, C. Brain Research 10.1016/j.brainres.2019.146341
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M.S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S.L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H., Wortmann, S., Levanon, E.Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A., Guerrini, R. Brain 10.1093/brain/awz326
Clinical and electroencephalographic correlates of psychiatric features in children with frontal lobe epilepsy Ticci Chiara, Luongo Teresa, Valvo Giulia, Ferrari Anna Rita, Brovedani Paola, Masi Gabriele, Pellacani Simona, Sicca Federico EPILEPSY & BEHAVIOR 10.1016/j.yebeh.2019.01.008
Clinical and neuroimaging features of the m.10197G>A mtDNA mutation Tolomeo D., Rubegni Anna, Severino M., Pochiero F., Bruno C., Cassandrini Denise Alessandra, Madeo A., Doccini Stefano, Pedemonte M., Rossi A., D'Amore F., Donati M. A., Di Rocco M., Santorelli Filippo Maria, Nesti Claudia JOURNAL OF THE NEUROLOGICAL SCIENCES 10.1016/j.jns.2019.02.010
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation Nesti Claudia, Rubegni Anna, Tolomeo Deborah, Baldacci Jacopo, Cassandrini Denise, D¿Amore Francesca, Santorelli Filippo M. NEUROLOGICAL SCIENCES 10.1007/s10072-019-03864-w
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants Nicita F., Stregapede F., Tessa A., Bassi M.T., Jezela-Stanek A., Primiano G., Pizzuti A., Barghigiani M., Nardella M., Zanni G., Servidei S., Astrea G., Panzeri E., Maghini C., Losito L., Ploski R., Gasperowicz P., Santorelli F.M., Bertini E., Travaglini L. JOURNAL OF NEUROLOGY 10.1007/s00415-019-09466-y
Degenerative and acquired sporadic adult onset ataxia Lieto Maria, Roca Alessandro, Santorelli Filippo Maria, Fico Tommasina, De Michele Giovanna, Bellofatto Marta, Saccà Francesco, De Michele Giuseppe, Filla Alessandro NEUROLOGICAL SCIENCES 10.1007/s10072-019-03856-w
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies Mei, D., Cetica, V., Marini, C., Guerrini, R. Epilepsia 10.1111/epi.16054
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study. Cucchiara Federico, Frumento Paolo, Banfi Tommaso, Sesso Gianluca, Di Galante Marco, D'ascanio Paola, Valvo Giulia, Sicca Federico, Faraguna Ugo SLEEP 10.1093/sleep/zsz255
Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System. Fichi Gianluca, Naef Valentina, Barca Amilcare, Longo Giovanna, Fronte Baldassare, Verri Tiziano, Santorelli Filippo M., Marchese Maria, Petruzzella Vittoria INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 10.3390/ijms20102409
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy Morani Federica, Doccini Stefano, Sirica Roberto, Paterno Marta, Pezzini Francesco, Ricca Ivana, Simonati Alessandro, Delledonne Massimo, Santorelli Filippo Maria Scientific Reports 10.1038/s41598-019-48047-x
Intrafamilial ¿DOA-plus¿ phenotype variability related to different OMI/HTRA2 expression Napolitano Filomena, Terracciano Chiara, Bruno Giorgia, Nesti Claudia, Barillari Maria R., Barillari Umberto, Santorelli Filippo M., Melone Mariarosa A.B., Esposito Teresa, Sampaolo Simone AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10.1002/ajmg.a.61381
Mitochondrial epilepsy Ticci Chiara, Sicca Federico, Ardissone Anna, Bertini Enrico, Carelli Valerio, Diodato Daria, Di Vito Lidia, Filosto Massimiliano, La Morgia Chiara, Lamperti Costanza, Martinelli Diego, Moroni Isabella, Musumeci Olimpia, Orsucci Daniele, Pancheri Elia, Peverelli Lorenzo, Primiano Guido, Rubegni Anna, Servidei Serenella, Siciliano Gabriele, Simoncini Costanza, Tonin Paola, Toscano Antonio, Mancuso Michelangelo, Santorelli Filippo M. NEUROGENETICS 10.1007/s10048-019-00601-5
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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity Cellini, E., Vetro, A., Conti, V., Marini, C., Doccini, V., Clementella, C., Parrini, E., Giglio, S., Della Monica, M., Fichera, M., Musumeci, S.A., Guerrini, R. European Journal of Human Genetics 10.1038/s41431-019-0335-3
Muscle pain in mitochondrial diseases: a picture from the Italian network Filosto M., Cotti Piccinelli S., Lamperti C., Mongini T., Servidei S., Musumeci O., Tonin P., Santorelli F.M., Simoncini C., Primiano G., Vercelli L., Rubegni A., Galvagni A., Moggio M., Comi G.P., Carelli V., Toscano A., Padovani A., Siciliano G., Mancuso M. JOURNAL OF NEUROLOGY 10.1007/s00415-019-09219-x
NeuroExam: A tool for neurological examination in neuromuscular diseases Conte Raffaele, Calderisi Marco, Giorgolo Francesca, Ceppa Ilaria, Astrea Guja, Rubegni Anna, Frosini Silvia, Bertocci Giulia, Santorelli Filippo Maria, Tonacci Alessandro, Sansone Francesco, Scudellari Maria Cristina, Pala Anna Paola, Grande Andrea, Diodato Gianluca, Roccella Stefano, Spezzaneve Andrea 2019 IEEE 23rd International Symposium on Consumer Technologies, ISCT 2019. Institute of Electrical and Electronics Engineers Inc. 10.1109/ISCE.2019.8901045
Next-generation sequencing approach to hyperCKemia Rubegni Anna, Malandrini Alessandro, Dosi Claudia, Astrea Guja, Baldacci Jacopo, Battisti Carla, Bertocci Giulia, Donati M Alice, Dotti M Teresa, Federico Antonio, Giannini Fabio, Grosso Salvatore, Guerrini Renzo, Lenzi Sara, Maioli Maria A, Melani Federico, Mercuri Eugenio, Sacchini Michele, Salvatore Simona, Siciliano Gabriele, Tolomeo Deborah, Tonin Paola, Volpi Nila, Santorelli Filippo M, Cassandrini Denise Neurology. Genetics 10.1212/NXG.0000000000000352
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings Scala Marcello, Brigati Giorgia, Fiorillo Chiara, Nesti Claudia, Rubegni Anna, Pedemonte Marina, Bruno Claudio, Severino Mariasavina, Derchi Maria, Minetti Carlo, Santorelli F. M. NEUROGENETICS 10.1007/s10048-019-00582-5
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility Lieto Maria, Galatolo Daniele, Roca Alessandro, Cocozza Sirio, Pontillo Giuseppe, Fico Tommasina, Pane Chiara, Saccà Francesco, De Michele Giuseppe, Santorelli Filippo Maria, Filla Alessandro Movement Disorders Clinical Practice 10.1002/mdc3.12839
SCN11A variant as possible pain generator in sensory axonal neuropathy Ginanneschi Federica, Rubegni Anna, Moro Francesca, Volpi Nila, Santorelli Filippo Maria, Rossi Alessandro NEUROLOGICAL SCIENCES 10.1007/s10072-019-3703-4
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy Pelorosso, C., Watrin, F., Conti, V., Buhler, E., Gelot, A., Yang, X., Mei, D., McEvoy-Venneri, J., Manent, J.-B., Cetica, V., Ball, L.L., Buccoliero, A.M., Vinck, A., Barba, C., Gleeson, J.G., Guerrini, R., Represa, A. Human molecular genetics 10.1093/hmg/ddz194
SPG8 mutations in Italian families: clinical data and literature review Ginanneschi Federica, D¿Amore Angelica, Barghigiani Melissa, Tessa Alessandra, Rossi Alessandro, Santorelli Filippo Maria NEUROLOGICAL SCIENCES 10.1007/s10072-019-04180-z
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. De Michele Giovanna, Lieto Maria, Galatolo Daniele, Salvatore Elena, Cocozza Sirio, Barghigiani Melissa, Tessa Alessandra, Baldacci Jacopo, Pappatà Sabina, Filla Alessandro, De Michele Giuseppe, Santorelli Filippo M. PARKINSONISM & RELATED DISORDERS 10.1016/j.parkreldis.2019.05.001
Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia. Naef Valentina, Mero Serena, Fichi Gianluca, D'Amore Angelica, Ogi Asahi, Gemignani Federica, Santorelli Filippo M., Marchese Maria Frontiers in Neuroscience 10.3389/fnins.2019.01311
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Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders. Rubegni Anna, Pasquariello Rosa, Dosi Claudia, Astrea Guja, Canapicchi Raffaello, Santorelli Filippo M., Nesti Claudia NEUROLOGY 10.1212/WNL.0000000000006740
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families Lieto M., Riso V., Galatolo D., De Michele G., Rossi S., Barghigiani M., Cocozza S., Pontillo G., Trovato R., Saccà F., Salvatore E., Tessa A., Filla A., Santorelli F. M., De Michele G., Silvestri G. EUROPEAN JOURNAL OF NEUROLOGY 10.1111/ene.14094
The extra-virgin olive oil polyphenols oleocanthal and oleacein counteract inflammation-related gene and mirna expression in adipocytes by attenuating nf-¿b activation Carpi Sara, Scoditti Egeria, Massaro Marika, Polini Beatrice, Manera Clementina, Digiacomo Maria, Salsano Jasmine Esposito, Poli Giulio, Tuccinardi Tiziano, Doccini Stefano, Santorelli Filippo Maria, Carluccio Maria Annunziata, Macchia Marco, Wabitsch Martin, De Caterina Raffaele, Nieri Paola Nutrients 10.3390/nu11122855
The features of the m.10197G>A mtDNA mutation Severino Mariasavina, Nesti Claudia, Rubegni Anna, Tolomeo Deborah, Santorelli Filippo M. JOURNAL OF THE NEUROLOGICAL SCIENCES 10.1016/j.jns.2019.04.005
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center. Zouvelou Vasiliki, Yubero Delia, Apostolakopoulou Loukia, Kokkinou Eleftheria, Bilanakis Manolis, Dalivigka Zoi, Nikas Ioannis, Kollia Elissavet, Perez-Dueñas Belen, Macaya Alfons, Marcé-Grau Anna, Voutetakis Antonis, Anagnostopoulou Katerina, Kekou Kiriaki, Sofocleus Christalena, Veltra Danae, Kokkinis Xaralabos, Fryssira Helen, Torres Rosa J., Amstrong Judith, Santorelli Filippo Maria, Artuch Rafael, Pons Roser EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 10.1016/j.ejpn.2019.02.001
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation Barba, C., Cross, J.H., Braun, K., Cossu, M., Klotz, K.A., De Masi, S., Perez Jiménez, M.A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, D., Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M.M., Eltze, C., Tahir, M.Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E.-L., Karppinen, A., Ferreira, J.C., Minkin, K., Marras, C.E., Arzimanoglou, A., Guerrini, R. Epilepsia 10.1111/epi.16414
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VARS2-linked mitochondrial encephalopathy: Two case reports enlarging the clinical phenotype Begliuomini C., Magli G., Di Rocco M., Santorelli Filippo Maria, Cassandrini Denise Alessandra, Nesti Claudia, Deodato F., Diodato D., Casellato S., Simula D.M., Dessì V., Eusebi A., Carta A., Sotgiu S. BMC Medical Genetics 10.1186/s12881-019-0798-7
PhysioTest: A Dedicated Module to Collect Data from Physiotherapy Assessments in Neuromuscular Diseases Conte R, Tonacci A, Sansone F, Diodato G, Scudellar, MC, Grande A, Pala AP, Astrea G, Frosini S, Santorelli FM BIOSYSTEMS AND BIOROBOTICS
Efficacy of WES in patients with unsolved phenotype: expansion of the phenotype spectrum associated with mutations in KARS gene Palazzo, V.; Peluso, F.; Dosa, L.; Della Monica, M.; Mari, F.; Procopio, E.; Donati, M.; Santorelli, F.; Guerrini, R.; Giglio, S.; Vergani, D. EUROPEAN JOURNAL OF HUMAN GENETICS
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Clinical, morphological and genetic data in Italian patients with fiber-type-disproportion Maggi, L.; Verardo, M.; Rubegni, A.; Bruno, C.; Lupica, A.; Berardinelli, A.; Ripolone, M.; Vattemi, G.; Ruggiero, L.; D'Amico, A.; Rodolico, C.; Sciacco, M.; Nigro, V.; Santorelli, F.; Tonin, P.; Fiorillo, C.; Mora, M. NEUROMUSCULAR DISORDERS 10.1016/j.nmd.2019.06.166
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Assessing frequency and features of muscle pain in mitochondrial diseases: a survey from a cohort of the Italian network Piccinelli, S. Cotti; Mongini, T.; Servidei, S.; Musumeci, O.; Tonin, P.; Santorelli, F. M.; Simoncini, C.; Primiano, G. A.; Vercelli, L.; Rubegni, A.; Galvagni, A.; Moggio, M. G.; Lamperti, C.; Comi, G. P.; Carelli, V.; Toscano, A.; Padovani, A.; Siciliano, G.; Mancuso, M.; Filosto, M. EUROPEAN JOURNAL OF NEUROLOGY
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SPG7 mutations explain a significant proportion of undiagnosed ataxia from Southern Italy Lieto, M.; Galatolo, D.; Antenora, A.; Roca, A.; Fico, T.; Dello Iacovo, D.; De Michele, G.; Santorelli, F. M.; Filla, A. EUROPEAN JOURNAL OF NEUROLOGY
Characterization of the phenotypic variability in Becker muscular dystrophy Ricci, G.; Florio, F.; Astrea, G.; Castiglione, V.; Simoncini, C.; Rocchi, A.; Giannoni, A.; Emdin, M.; Siciliano, G. EUROPEAN JOURNAL OF NEUROLOGY
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Brain Hemodynamic Intermediate Phenotype Links Vitamin B 12 to Cognitive Profile of Healthy and Mild Cognitive Impaired Subjects Cecchetti L, Lettieri G, Handjaras G, Leo A, Ricciardi E, Pietrini P, Pellegrini S, The Train the Brain Consortium, Baroncelli Laura, Biagi Laura, cioni giovanni, Pasquariello Rosa, Tosetti Michela, et al NEURAL PLASTICITY 10.1155/2019/6874805
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Investigating time-varying brain connectivity with functional magnetic resonance imaging using sequential Monte Carlo Ambrosi Pierfrancesco, Costagli Mauro, Kuruoglu Ercan E., Biagi Laura, Buonincontri Guido, Tosetti Michela EUSIPCO 2019 - 27th European Signal Processing Conference. European Signal Processing Conference, EUSIPCO 10.23919/EUSIPCO.2019.8902503
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Quantitative susceptibility mapping in atypical Parkinsonisms Mazzucchi Sonia, Frosini Daniela, Costagli Mauro, Del Prete Eleonora, Donatelli Graziella, Cecchi Paolo, Migaleddu Gianmichele, Bonuccelli Ubaldo, Ceravolo Roberto, Cosottini Mirco NeuroImage-Clinical 10.1016/j.nicl.2019.101999
Ultra-high-field targeted imaging of focal cortical dysplasia: The intracortical black line sign in type IIB Bartolini E., Cosottini M., Costagli M., Barba C., Tassi L., Spreafico R., Garbelli R., Biagi L., Buccoliero A., Giordano F., Guerrini R. AMERICAN JOURNAL OF NEURORADIOLOGY 10.3174/ajnr.A6298
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MR Compatible Power Supply Module for PET Detectors of an Integrated PET/MR System Vito Gagliardi, Andrea Puccini, Nicola Belcari, Niccolò Carmarlinghi, Maria Evelina Fantacci, Francesco Fidecaro, Giovanni Franchi, Giancarlo Sportelli, Laura Biagi, Michela Tosetti, Maria Giuseppina Bisogni IEEE Transactions on Radiation and Plasma Medical Sciences
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Combining constraint-induced movement therapy and action-observation training in children with unilateral cerebral palsy A randomized controlled trialSimon-Martinez Cristina, Mailleux Lisa, Ortibus Els, Fehrenbach Anna, Sgandurra Giuseppina, Cioni Giovanni, Desloovere Kaat, Wenderoth Nicole, Demaerel Philippe, Sunaert Stefan, Molenaers Guy, Feys Hilde, Klingels KatrijnBMC Pediatrics10.1186/s12887-018-1228-2
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Evoked potentials recorded during routine EEG predict outcome after perinatal asphyxiaNevalainen P, Marchi V, Metsaranta M, Lonnqvist T, Toiviainen-Salo S, Vanhatalo S, Lauronen LClinical Neurophysiol.10.1016/j.clinph.2017.04.025
Fixel-based analysis reveals alterations is brain microstructure and macrostructure of preterm-born infants at term equivalent agePannek Kerstin, Fripp Jurgen, George Joanne M., Fiori Simona, Colditz Paul B., Boyd Roslyn N., Rose Stephen E.NeuroImage-Clinical10.1016/j.nicl.2018.01.003
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Grasping neurons in the ventral premotor cortex of macaques are modulated by social goalsCoud¿¿ Gino, Toschi Giulia, Festante Fabrizia, Bimbi M, Bonaiuto J, Ferrari PFJOURNAL OF COGNITIVE NEUROSCIENCE10.1162/jocn_a_01353
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Independent adaptation mechanisms for numerosity and size perception provide evidence against a common sense of magnitudeAnobile Giovanni, Burr David C, Iaia Marika, Marinelli Chiara V, Angelelli Paola, Turi MarcoScientific Reports10.1038/s41598-018-31893-6
Infant posture and movement analysis using a sensor-supported gym with toysRihar Andra¿¿, Mihelj Matja¿¿, Pa¿¿i¿¿ Jure, Sgandurra Giuseppina, Cecchi Francesca, Cioni Giovanni, Dario Paolo, Munih MarkoMEDICAL & BIOLOGICAL ENGINEERING & COMPUTING10.1007/s11517-018-1890-4
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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeBauer C.K., Calligari P., Radio F.C., Caputo V., Dentici M.L., Falah N., High F., Pantaleoni F., Barresi S., Ciolfi A., Pizzi S., Bruselles A., Person R., Richards S., Cho M.T., Claps Sepulveda D.J., Pro S., Battini Roberta, Zampino G., Digilio M.C., Bocchinfuso G., Dallapiccola B., Stella L., Tartaglia M.AMERICAN JOURNAL OF HUMAN GENETICS10.1016/j.ajhg.2018.09.001
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndromeAretini Paolo, Mazzanti Chiara Maria, La Ferla Marco, Franceschi Sara, Lessi Francesca, De Gregorio Veronica, Nesti Claudia, Valetto Angelo, Bertini Veronica, Toschi Benedetta, Battini Roberta, Caligo Maria AdelaideBMC Neurology10.1186/s12883-018-1103-7
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Supramodal agnosia for oblique mirror orientation in patients with periventricular leukomalaciaCastaldi Elisa, Tinelli Francesca, Cicchini Guido M., Morrone Maria ConcettaCORTEX10.1016/j.cortex.2018.03.010
Tele-UPCAT study protocol of a randomised controlled trial of a home-based Tele-monitored UPper limb Children Action observation Training for participants with unilateral cerebral palsySgandurra Giuseppina, Cecchi Francesca, Beani Elena, Mannari Irene, Maselli Martina, Falotico Francesco Paolo, Inguaggiato Emanuela, perazza silvia, Sicola Elisa, Feys Hilde, Klingels Katrijn, Ferrari Adriano, Dario Paolo, Boyd Roslyn N, Cioni GiovanniBMJ Open10.1136/bmjopen-2017-017819
Typical numerosity adaptation despite selectively impaired number acuity in dyscalculiaAnobile Giovanni, Cicchini Guido Marco, Gasperini Filippo, Burr David C.NEUROPSYCHOLOGIA10.1016/j.neuropsychologia.2018.10.006
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal dataPane M., Coratti G., Brogna C., Mazzone E.S., Mayhew A., Fanelli L., Messina S., Amico A.D., Catteruccia M., Scutifero M., Frosini Silvia, Lanzillotta V., Colia G., Cavallaro F., Rolle E., De Sanctis R., Forcina N., Petillo R., Barp A., Gardani A., Pini A., Monaco G., Angelo M.G.D., Zanin R., Vita G.L., Bruno C., Mongini T., Ricci F., Pegoraro E., Bello L., Berardinelli A., Battini Roberta, Sansone V., Albamonte E., Baranello G., Bertini E., Politano L., Sormani M.P., Mercuri E.PLoS One10.1371/journal.pone.0199223
A NATURALISTIC EXPLORATORY STUDY OF OBSESSIVE-COMPULSIVE BIPOLAR COMORBIDITY IN YOUTHMasi Gabriele, Berloffa Stefano, Mucci Maria, Pfanner Chiara, D'Acunto Maria Giulia, lenzi francesca, Liboni Francesca, Manfredi Azzurra, Milone AnnaritaJOURNAL OF AFFECTIVE DISORDERS10.1016/j.jad.2018.01.020
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf‿Hirschhorn syndromeHo Karen S., Markham Leah M., Twede Hope, Lortz Amanda, Olson Lenora M., Sheng Xiaoming, Weng Cindy, Wassman E. Robert, Newcomb Tara, Wassman E. Robert, Carey John C., Battaglia AgatinoEPILEPSY & BEHAVIOR10.1016/j.yebeh.2017.12.008
A systematic review of structural MRI biomarkers in autism spectrum disorder A machine learning perspectivePagnozzi Alex M., Conti Eugenia, Calderoni Sara, Fripp Jurgen, Rose Stephen E.INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE10.1016/j.ijdevneu.2018.08.010
Analysis of shared heritability in common disorders of the brainThe Brainstorm Consortium Gruppo, Anttila Verneri, Bulik-Sullivan Brendan, Finucane Hilary K., et al, Battaglia Agatino, Betancur C, Murray RSCIENCE10.1126/science.aap8757
Antenatal ultrasound value in risk calculation for Autism Spectrum Disorder A systematic review to support future researchFulceri Francesca, Guzzetta Andrea, Athanasiadou Argyro, Iaconianni Laura, Scattoni Maria LuisaNEUROSCIENCE AND BIOBEHAVIORAL REVIEWS10.1016/j.neubiorev.2018.05.016
Brain morphometry of preschool age children affected by autism spectrum disorder Correlation with clinical findingsLucibello S., Verdolotti T., Giordano F. M., Lapenta L., Infante A., Piludu F., Tartaglione T., Chieffo D., Colosimo C., Mercuri E., Battini RobertaCLINICAL ANATOMY10.1002/ca.23252
Brainstem enlargement in preschool children with autism Results from an intermethod agreement study of segmentation algorithmsBosco Paolo, Giuliano Alessia, Delafield-Butt Jonathan, Muratori Filippo, Calderoni Sara, Retico AlessandraHUMAN BRAIN MAPPING10.1002/hbm.24351
Building a theoretical framework for autism spectrum disorders screening instruments in EuropeMag¿¿n-Maganto Mar¿¿a, J¿¿nsd¿¿ttir Sigr¿¿dur L¿¿a, S¿¿nchez-Garc¿¿a Ana B., Garc¿¿a-Primo Patricia, Hellendoorn Annika, Charman Tony, Roeyers Herbert, Dereu Mieke, Moilanen Irma, Muratori Filippo, Posada de la Paz Manuel, Rog¿¿ Bernadette, Oosterling Iris J., Yliherva Anneli, Canal-Bedia RicardoChild and Adolescent Mental Health10.1111/camh.12256
Construction of Past and Future Events in Children and Adolescents with ASD Role of Self-relatedness and Relevance to Decision-MakingCiaramelli Elisa, Spoglianti Silvia, Bertossi Elena, Generali Nadia, Telarucci Francesca, Tancredi Raffaella, Muratori Filippo, Igliozzi RobertaJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS10.1007/s10803-018-3577-y
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderGregor Anne, Sadleir Lynette G., Asadollahi Reza, Azzarello-Burri Silvia, Battaglia Agatino, Ousager Lilian Bomme, Boonsawat Paranchai, Bruel Ange Line, Buchert Rebecca, Calpena Eduardo, Cogn¿¿ Benjamin, Dallapiccola Bruno, Distelmaier Felix, Elmslie Frances, Faivre Laurence, Haack Tobias B., Harrison Victoria, Henderson Alex, Hunt David, Isidor Bertrand, Joset Pascal, Kumada Satoko, Lachmeijer Augusta M.A., Lees Melissa, Lynch Sally Ann, Martinez Francisco, Matsumoto Naomichi, McDougall Carey, Mefford Heather C., Miyake Noriko, Myers Candace T., Moutton S¿¿bastien, Nesbitt Addie, Novelli Antonio, Orellana Carmen, Rauch Anita, Rosello Monica, Saida Ken, Santani Avni B., Sarkar Ajoy, Scheffer Ingrid E., Shinawi Marwan, Steindl Katharina, Symonds Joseph D., Zackai Elaine H., Reis Andr¿¿, Sticht Heinrich, Zweier ChristianeAMERICAN JOURNAL OF HUMAN GENETICS10.1016/j.ajhg.2018.07.003
Emotional processing deficits in Italian children with Disruptive Behavior Disorder The role of callous unemotional traitsBilleci Lucia, Muratori Pietro, Calderoni Sara, Chericoni Natasha, Levantini Valentina, Milone Annarita, Nocentini Annalaura, Papini Marina, Ruglioni Laura, Dadds MarkBEHAVIOUR RESEARCH AND THERAPY10.1016/j.brat.2018.12.011
Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum DisorderTillmann J., Ashwood K., Absoud M., B¿¿lte S., Bonnet-Brilhault F., Buitelaar J. K., Calderoni Sara, Calvo R., Canal-Bedia R., Canitano R., De Bildt A., Gomot M., Hoekstra P. J., Kaale A., McConachie H., Murphy D. G., Narzisi Antonio, Oosterling I., Pejovic-Milovancevic M., Persico A. M., Puig O., Roeyers H., Rommelse N., Sacco R., Scandurra V., Stanfield A. C., Zander E., Charman T.JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS10.1007/s10803-018-3510-4
Heart rate variability during a joint attention task in toddlers with autism spectrum disordersBilleci Lucia, Tonacci Alessandro, Narzisi Antonio, Manigrasso Zaira, Varanini Maurizio, Fulceri Francesca, Lattarulo Caterina, Calderoni Sara, Muratori FilippoFrontiers in Physiology10.3389/fphys.2018.00467
Interpersonal motor coordination during joint actions in children with and without autism spectrum disorder The role of motor informationFulceri Francesca, Tonacci Alessandro, Lucaferro Andrea, Apicella Fabio, Narzisi Antonio, Vincenti Giulia, Muratori Filippo, Contaldo AnnaritaRESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2018.05.018
Lithium treatment in bipolar adolescents A follow-up naturalistic studyMasi Gabriele, Milone Annarita, Scrinzi Giulia, Mucci Maria, Viglione Valentina, Bruni G, Berloffa Stefano, Pisano SNeuropsychiatric Disease and Treatment10.2147/NDT.S172654
Motor skills as moderators of core symptoms in autism spectrum disorders Preliminary data from an exploratory analysis with artificial neural networksFulceri Francesca, Grossi Enzo, Contaldo Annarita, Narzisi Antonio, Apicella Fabio, Parrini Ilaria, Tancredi Raffaella, Calderoni Sara, Muratori FilippoFrontiers in Psychology10.3389/fpsyg.2018.02683
Multimodal functional and structural brain connectivity analysis in autism A preliminary integrated approach with EEG, fMRI, and DTICociu Bogdan Alexandru, Das Saptarshi, Billeci Lucia, Jamal Wasifa, Maharatna Koushik, Calderoni Sara, Narzisi Antonio, Muratori FilippoIEEE Transactions on Cognitive and Developmental Systems10.1109/TCDS.2017.2680408
Narcissistic traits and self-esteem in children Results from a community and a clinical sample of patients with oppositional defiant disorderMuratori Pietro, Milone Annarita, BROVEDANI PAOLA, Levantini Valentina, Melli Gabriele, Pisano Simone, Valente Elena, Thomaes Sander, Masi GabrieleJOURNAL OF AFFECTIVE DISORDERS10.1016/j.jad.2018.08.043
Phantom Phone Signals in youths Prevalence, correlates and relation to psychopathologyPisano Simone, Muratori Pietro, Senese Vincenzo Paolo, Gorga Chiara, Siciliano Margherita, Carotenuto Marco, Iuliano Raffaella, Bravaccio Carmela, Signoriello Simona, Gritti Antonella, Pascotto Antonio, Catone GennaroPLoS One10.1371/journal.pone.0210095
Pregnancy risk factors related to autism An Italian case-control study in mothers of children with autism spectrum disorders (ASD), their siblings and of typically developing childrenGrossi E., Migliore L., Muratori FilippoJournal of Developmental Origins of Health and Disease10.1017/S2040174418000211
Prevalence of Autism Spectrum Disorder in a large Italian catchment area A school-based population study within the ASDEU projectNarzisi Antonio, Posada M., Barbieri F., Chericoni Natasha, Ciuffolini D., Pinzino M., Romano R., Scattoni M. L., Tancredi Raffaella, Calderoni Sara, Muratori FilippoEpidemiology and Psychiatric Sciences10.1017/S2045796018000483
Quantifying patterns of joint attention during human-robot interactions An application for autism spectrum disorder assessmentAnzalone Salvatore Maria, Xavier Jean, Boucenna Sofiane, Billeci Lucia, Narzisi Antonio, Muratori Filippo, Cohen David, Chetouani MohamedPATTERN RECOGNITION LETTERS10.1016/j.patrec.2018.03.007
Risk of hepatic neoplasms in Wolf‿Hirschhorn syndrome (4p-): Four new cases and review of the literatureBattaglia Agatino, Calhoun Amy R.U.L., Lortz Amanda, Carey John C.AMERICAN JOURNAL OF MEDICAL GENETICS PART A10.1002/ajmg.a.40469
Six-year outcome for children with ODD or CD treated with the coping power programMuratori Pietro, Milone Annarita, Levantini Valentina, Ruglioni Laura, Lambruschi Furio, Pisano Simone, Masi Gabriele, Lochman John E.PSYCHIATRY RESEARCH10.1016/j.psychres.2018.12.018
Trajectories of callous‿unemotional traits from childhood to adolescence in referred youth with a disruptive behavior disorder who received intensive multimodal therapy in childhoodMasi Gabriele, Pisano Simone, BROVEDANI PAOLA, Maccaferri Gioia, Manfredi Azzurra, Milone Annarita, Nocentini Annalaura, Polidori Lisa, Ruglioni Laura, Muratori PietroNeuropsychiatric Disease and Treatment10.2147/NDT.S164032
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxiaVicario Mattia, Zanni Ginevra, Vallese Francesca, Santorelli Filippo Maria, Grinzato Alessandro, Cieri Domenico, Berto Paola, Frizzarin Martina, Lopreiato Raffaele, Zonta Francesco, Ferro Stefania, Sandre Michele, Marin Oriano, Ruzzene Maria, Bertini Enrico, Zanotti Giuseppe, Brini Marisa, Cal¿¿ Tito, Carafoli ErnestoNEUROBIOLOGY OF DISEASE10.1016/j.nbd.2018.04.009
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case reportMoro Francesca, Rubegni Anna, Pochiero Francesca, Mero Serena, Procopio Elena, Baldacci Jacopo, Donati Maria A., Santorelli Filippo MariaNEUROMUSCULAR DISORDERS10.1016/j.nmd.2018.11.006
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyAstrea Guja, Romano A., Angelini C., Antozzi C.G., Barresi R., Battini Roberta, Battisti C., Bertini E., Bruno C., cassandrini denise alessandra, Fanin M., Fattori F., Fiorillo C., Guerrini R., Maggi L., Mercuri E., Morani Federica, Mora M., Moro Francesca, Pezzini I., Picillo E., Pinelli M., Politano L., Rubegni Anna, Sanseverino W., Savarese M., Striano P., Torella A., Trevisan C.P., Trovato Rosanna, Zaraieva I., Muntoni F., Nigro V., D'Amico A., Santorelli Filippo Maria, Network Italian CMDOrphanet Journal of Rare Diseases10.1186/s13023-018-0863-x
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35) case reports, new mutations, and brief literature reviewMari Francesco, Berti Beatrice, Romano Alessandro, Baldacci Jacopo, Rizzi Riccardo, Alessandrì Maria Grazia, Tessa Alessandra, Procopio Elena, Rubegni Anna, Louren¿¿¿o Charles Marques, Simonati Alessandro, Guerrini R, Santorelli Filippo MariaNEUROGENETICS10.1007/s10048-018-0538-8
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesisdi Ronza Alberto, Bajaj Lakshya, Sharma Jaiprakash, Sanagasetti Deepthi, Lotfi Parisa, Adamski Carolyn Joy, Collette John, Palmieri Michela, Amawi Abdallah, Popp Lauren, Chang Kevin Tommy, Meschini Maria Chiara, Leung Hon Chiu Eastwood, Segatori Laura, Simonati Alessandro, Sifers Richard Norman, Santorelli Filippo Maria, Sardiello MarcoNATURE CELL BIOLOGY10.1038/s41556-018-0228-7
Copy number variants account for a tiny fraction of undiagnosed myopathic patientsGiugliano T., Savarese M., Garofalo A., Picillo E., Fiorillo C., D¿¿¿amico A., Maggi L., Ruggiero L., Vercelli L., Magri F., Fattori F., Torella A., Ergoli M., Rubegni Anna, Fanin M., Musumeci O., De Bleecker J., Peverelli L., Moggio M., Mercuri E., Toscano A., Mora M., Santoro L., Mongini T., Bertini E., Bruno C., Minetti C., Comi G.P., Santorelli Filippo Maria, Angelini C., Politano L., Piluso G., Nigro V.Genes10.3390/genes9110524
Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery Application to Polymeric NanoparticlesGalliani Marianna, Santi Melissa, Del Grosso Ambra, Cecchettini Antonella, Santorelli Filippo Maria, Hofmann Sandra L., Lu Jui Yun, Angella Lucia, Cecchini Marco, Signore GiovanniBIOCONJUGATE CHEMISTRY10.1021/acs.bioconjchem.8b00206
De novo unbalanced translocations have a complex history/aetiologyBonaglia M.C., Kurtas N.E., Errichiello E., Bertuzzo S., Beri S., Mehrjouy M.M., Provenzano A., Vergani D., Pecile V., Novara F., Reho P., Di Giacomo M.C., Discepoli G., Giorda R., Aldred M.A., Santos-Rebou¿¿as C.B., Goncalves A.P., Abuelo D.N., Giglio S., Ricca Ivana, Franchi F., Patsalis P., Sismani C., Mor¿¿ M.A., Nevado J., Tommerup N., Zuffardi O.HUMAN GENETICS10.1007/s00439-018-1941-9
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathySferra Antonella, Fattori Fabiana, Rizza Teresa, Flex Elsabetta, Bellacchio Emanuele, Bruselles Alessandro, Petrini Stefania, Cecchetti Serena, Teson Massimo, Restaldi Fabrizia, Ciolfi Andrea, Santorelli Filippo Maria, Zanni Ginevra, Barresi Sabina, Castiglioni Claudia, Tartaglia Marco, Bertini EnricoHUMAN MOLECULAR GENETICS10.1093/hmg/ddy096
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyTrivisano M., Pietrafusa N., Terracciano A., Marini C., Mei D., Darra F., Accorsi P., Battaglia D., Caffi L., Canevini M.P., Cappelletti S., Cesaroni E., de Palma L., Costa P., Cusmai R., Giordano L., Ferrari Anna Rita, Freri E, Fusco L, Granata T, Martino T, Matrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca Federico, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio NEPILEPSIA10.1111/epi.14600
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genesCoutelier M., Hammer M.B., Stevanin G., Monin M.-L., Davoine C.-S., Mochel F., Labauge P., Ewenczyk C., Ding J., Gibbs J.R., Hannequin D., Melki J., Toutain A., Laugel V., Forlani S., Charles P., Broussolle E., Thobois S., Afenjar A., Anheim M., Calvas P., Castelnovo G., De Broucker T., Vidailhet M., Moulignier A., Ghnassia R.T., Tallaksen C., Mignot C., Goizet C., Le Ber I., Ollagnon-Roman E., Pouget J., Brice A., Singleton A., Durr A., Belarabi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Ullmann U., Jardim L., Guergueltcheva V., Tournev I., Soong B.-W., Linar¿¿s O.L.P., Nielsen J.E., Svenstrup K., Zaki M., Azulay J.-P., Banneau G., Boesfplug-Tanguy O., Burgo A., Cazeneuve C., Darios F., Depienne C., Duyckaerts C., Fontaine B., Hazan J., Koenig M., Marelli C., N'guyen K., Rodriguez D., Sittler A., Verny C., Bauer P., Sch¿¿ls L., Sch¿¿le R., Koutsis G., Lossos A., Antenora A., Bassi M.T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Lieto M., Orsi L., Santorelli Filippo Maria, Valente E.M., Vavla M., Vazza G., Megarbane A., Benomar A., Roxburgh R., Erichsen A.K., Alonso I., Coutinho P., Loureiro J.L., Sequeiros J., Salih M., Kostic V.S., Axpe I.R., Roumani S., Kremer B., Van Roon-Mom W., Boukhris A., Mhiri C., Karabay A., Nethisinghe S., Okane C., Oliva M., Reid E., Warner T., Wood N., Paraplegia Spastic, Network AtaxiaJAMA Neurology10.1001/jamaneurol.2017.5121
Integrative analysis of differentially expressed genes and miRNAs predicts complex T3-mediated protective circuits in a rat model of cardiac ischemia reperfusionForini Francesca, Nicolini Giuseppina, Kusmic Claudia, D¿¿¿Aurizio Romina, Rizzo Milena, Baumgart Mario, Groth Marco, DOCCINI STEFANO, Iervasi Giorgio, Pitto LetiziaScientific Reports10.1038/s41598-018-32237-0
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersSavarese Marco, Maggi Lorenzo, Vihola Anna, Jonson Per Harald, Tasca Giorgio, Ruggiero Lucia, Bello Luca, Magri Francesca, Giugliano Teresa, Torella Annalaura, Evil¿¿ Anni, Di Fruscio Giuseppina, Vanakker Olivier, Gibertini Sara, Vercelli Liliana, Ruggieri Alessandra, Antozzi Carlo, Luque Helena, Janssens Sandra, Pasanisi Maria Barbara, Fiorillo Chiara, Raimondi Monika, Ergoli Manuela, Politano Luisa, Bruno Claudio, Rubegni Anna, Pane Marika, Santorelli Filippo Maria, Minetti Carlo, Angelini Corrado, De Bleecker Jan, Moggio Maurizio, Mongini Tiziana, Comi Giacomo Pietro, Santoro Lucio, Mercuri Eugenio, Pegoraro Elena, Mora Marina, Hackman Peter, Udd Bjarne, Nigro VincenzoJAMA Neurology10.1001/jamaneurol.2017.4899
Italian recommendations for diagnosis and management of congenital myasthenic syndromesMaggi Lorenzo, Bernasconi Pia, D¿¿¿Amico Adele, Brugnoni Raffaella, Fiorillo Chiara, Garibaldi Matteo, Astrea Guja, Bruno Claudio, Santorelli Filippo Maria, Liguori Rocco, Antonini Giovanni, Evoli Amelia, Bertini Enrico, Rodolico Carmelo, Mantegazza RenatoNEUROLOGICAL SCIENCES10.1007/s10072-018-3682-x
Kufs disease due to mutation of CLN6 clinical, pathological and molecular genetic featuresBerkovic Samuel F., Oliver Karen L., Canafoglia Laura, Krieger Penina, Damiano John A., Hildebrand Michael S., Morbin Michela, Vears Danya F., Sofia Vito, Giuliano Loretta, Garavaglia Barbara, Simonati Alessandro, Santorelli Filippo Maria, Gambardella Antonio, Labate Angelo, Belcastro Vincenzo, Castellotti Barbara, Ozkara Cigdem, Zeman Adam, Rankin Julia, Mole Sara E., Aguglia Umberto, Farrell Michael, Rajagopalan Sulekha, McDougall Alan, Brammah Susan, Andermann Frederick, Andermann Eva, Dahl Hans Henrik M., Franceschetti Silvana, Carpenter StirlingBRAIN10.1093/brain/awy297
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneCardaioli Elena, Mignarri Andrea, Cantisani Teresa Anna, Malandrini Alessandro, Nesti Claudia, Rubegni Anna, Funel Niccola, Federico Antonio, Santorelli Filippo Maria, Dotti Maria TeresaBIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS10.1016/j.bbrc.2018.04.009
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyD'Amore Angelica, Tessa Alessandra, Casali Carlo, Dotti Maria Teresa, Filla Alessandro, Silvestri Gabriella, Antenora Antonella, Astrea Guja, Barghigiani Melissa, Battini Roberta, Battisti Carla, Bruno Irene, Cereda Cristina, Dato Clemente, Di Iorio Giuseppe, Donadio Vincenzo, Felicori Monica, Fini Nicola, Fiorillo Chiara, Gallone Salvatore, Gemignani Federica, Gigli Gian Luigi, Graziano Claudio, Guerrini Renzo, Gurrieri Fiorella, Kariminejad Ariana, Lieto Maria, Marques Louren¿¿¿o Charles, Malandrini Alessandro, Mandich Paola, Marcotulli Christian, Mari Francesco, Massacesi Luca, Melone Maria A B, Mignarri Andrea, Milone Roberta, Musumeci Olimpia, Pegoraro Elena, Perna Alessia, Petrucci Antonio, Pini Antonella, Pochiero Francesca, Pons Maria Roser, Ricca Ivana, Rossi Salvatore, Seri Marco, Stanzial Franco, Tinelli Francesca, Toscano Antonio, Valente Mariarosaria, Federico Antonio, Rubegni Anna, Santorelli Filippo MariaFrontiers in Neurology10.3389/fneur.2018.00981
PhysioTest: A Dedicated Module to Collect Data from Physiotherapy Assessments in Neuromuscular DiseasesConte R, Tonacci A, Sansone F, Diodato G, Scudellari MC, Grande A, Pala AP, Astrea Guja, Frosini S, Santorelli Filippo Maria10.1007/978-3-030-01845-0_161
Predictors of survival in spinocerebellar ataxia type 2 population from Southern ItalyAntenora Antonella, Bruzzese Dario, Lieto Maria, Roca Alessandro, Florio Maria Teresa, Peluso Silvio, Sacc¿¿ Francesco, De Michele Giuseppe, Santorelli Filippo Maria, Filla AlessandroNEUROLOGICAL SCIENCES10.1007/s10072-018-3504-1
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in ItalyMancini C., Giorgio E., Rubegni Anna, Pradotto L., Bagnoli S., Rubino E., Prontera P., Cavalieri S., Di Gregorio E., Ferrero M., Pozzi E., Riberi E., Ferrero P., Nigro P., Mauro A., Zibetti M., Tessa Alessandra, Barghigiani Melissa, Antenora A., Sirchia F., Piacentini S., Silvestri G., De Michele G., Filla A., Orsi L., Santorelli Filippo Maria, Brusco A.EUROPEAN JOURNAL OF NEUROLOGY10.1111/ene.13768
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14 The multifaceted phenotypic spectrum of KCTD7-related disordersMastrangelo Mario, Sartori Stefano, Simonati Alessandro, Brinciotti Mario, Moro Francesca, Nosadini Margherita, Pezzini Francesco, DOCCINI STEFANO, Santorelli Filippo Maria, Leuzzi VincenzoEuropean Journal of Medical Genetics10.1016/j.ejmg.2018.11.025
Relapsing-Remitting Course of Cystic LeukoencephalopathyRubegni Anna, Ferrari Anna Rita, Pasquariello Rosa, Canapicchi Raffaello, Santorelli Filippo Maria, Nesti ClaudiaPEDIATRIC NEUROLOGY10.1016/j.pediatrneurol.2018.08.021
Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genomeDe Michele Giovanna, Sorrentino Pierpaolo, Nesti Claudia, Rubegni Anna, Ruggiero Lucia, Peluso Silvio, Antenora Antonella, Quarantelli Mario, Filla Alessandro, Michele Giuseppe De, Santorelli Filippo MariaFrontiers in Neurology10.3389/fneur.2018.00728
SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathyVlaskamp Danique R.M., Shaw Benjamin J., Burgess Rosemary, Mei Davide, Montomoli Martino, Xie Han, Myers Candace T., Bennett Mark F., XiangWei Wenshu, Williams Danielle, Maas Saskia M., Brooks Alice S., Mancini Grazia M.S., van de Laar Ingrid M.B.H., van Hagen Johanna M., Ware Tyson L., Webster Richard I., Malone Stephen, Berkovic Samuel F., Kalnins Renate M., Sicca Federico, Korenke G. Christoph, van Ravenswaaij-Arts Conny M.A., Hildebrand Michael S., Mefford Heather C., Jiang Yuwu, Guerrini RNEUROLOGY10.1212/WNL.0000000000006729
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Double Tuned 1H-23Na Birdcage Coils for MRI at 7 T Performance evaluation through electromagnetic simulationsMaggiorelli F., Retico A., Boskamp E., Robb F., Galante A., Fantasia M., Alecci M., Tosetti Michela, Tiberi Gianluigi10.1109/MeMeA.2018.8438777
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Response to short-term deprivation of the human adult visual cortex measured with 7T BOLDBinda P, Kurzawski Jan, Lunghi C, Biagi Laura, Tosetti Michela, Morrone Maria ConcettaeLife10.7554/eLife.40014
Silent T2 * and T2 encoding using ZTE combined with BURSTSchulte RF, Buonincontri Guido, Costagli Mauro, Menini A, Wiesinger F, Solana ABMAGNETIC RESONANCE IN MEDICINE10.1002/mrm.27552
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Vascular Function Is Improved After an Environmental Enrichment Program The Train the Brain-Mind the Vessel StudyTrain the Brain Consortium Gruppo, Bruno Rosa Maria, Stea Francesco, Sicari Rosa, Ghiadoni Lorenzo, Taddei Stefano, Ungar Andrea, Bonuccelli Ubaldo, Tognoni Gloria, Cintoli Simona, Del Turco Serena, Sbrana Silverio, Gargani Luna, D'Angelo Gennaro, Pratali Lorenza, Berardi Nicoletta, Maffei Lamberto, Picano Eugenio, et al, Biagi Laura, Cioni Giovanni, Pasquariello Rosa, Tosetti Michela, Turchi S, Volpi LHYPERTENSION10.1161/HYPERTENSIONAHA.117.10066
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyAlcantara Diana, Timms Andrew E., Gripp Karen, Baker Laura, Park Kaylee, Collins Sarah, Cheng Chi, Stewart Fiona, Mehta Sarju G., Saggar Anand, Sztriha L¿¿szl¿¿, Zombor Melinda, Caluseriu Oana, Mesterman Ronit, Van Allen Margot I., Jacquinet Adeline, Ygberg Sofia, Bernstein Jonathan A., Wenger Aaron M., Guturu Harendra, Bejerano Gill, Gomez-Ospina Natalia, Lehman Anna, Alfei Enrico, Pantaleoni Chiara, Conti Valerio, Guerrini Renzo, Moog Ute, Graham John M., Hevner Robert, Dobyns William B., O'Driscoll Mark, Mirzaa Ghayda M.BRAIN10.1093/brain/awx203
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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationBranchu Julien, Boutry Maxime, Sourd Laura, Depp Marine, Leone C¿¿line, Corriger Alexandrine, Vallucci Maeva, Esteves Typhaine, Matusiak Rapha¿¿l, Dumont Magali, Muriel Marie Paule, Santorelli Filippo Maria, Brice Alexis, El Hachimi Khalid Hamid, Stevanin Giovanni, Darios Fr¿¿d¿¿ricNEUROBIOLOGY OF DISEASE10.1016/j.nbd.2017.02.007
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Vision Assessments and Interventions for Infants 0-2 Years at High Risk for Cerebral Palsy A Systematic ReviewChorna Olena D., Guzzetta Andrea, Maitre Nathalie L.PEDIATRIC NEUROLOGY10.1016/j.pediatrneurol.2017.07.011
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Validation of an MRI brain injury and growth scoring system in very preterm infants scanned at 29-to 35-week postmenstrual ageGeorge J. M., Fiori Simona, Fripp J., Pannek K., Bursle J., Moldrich R. X., Guzzetta Andrea, Coulthard A., Ware R. S., Rose S. E., Colditz P. B., Boyd R. N.AMERICAN JOURNAL OF NEURORADIOLOGY10.3174/ajnr.A5191
Relationship between very early brain structure and neuromotor, neurological and neurobehavioral function in infants born &lt;31â⿬¯weeks gestational ageGeorge Joanne M., Fiori Simona, Fripp Jurgen, Pannek Kerstin, Guzzetta Andrea, David Michael, Ware Robert S., Rose Stephen E., Colditz Paul B., Boyd Roslyn N.EARLY HUMAN DEVELOPMENT10.1016/j.earlhumdev.2017.12.014
Estimation of losses in strip and circular wire conductors of radiofrequency planar surface coil by using the finite element methodGiovannetti Giulio, Fontana Nunzia, Monorchio Agostino, Tosetti Michela, Tiberi GianluigiCONCEPTS IN MAGNETIC RESONANCE PART B-MAGNETIC RESONANCE ENGINEERING10.1002/cmr.b.21358
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Epilepsy surgery of â⿬ſlow grade epilepsy associated neuroepithelial tumorsâ⿬¿: A retrospective nationwide Italian studyGiulioni M., Marucci G., Pelliccia V., Gozzo F., Barba C., Didato G., Villani F., Di Gennaro G., Quarato P.P., Esposito V., Consales A., Martinoni M., Vornetti G., Zenesini C., Efisio Marras C., Specchio N., De Palma L., Rocchi R., Giordano F., Tringali G., Nozza P., Colicchio G., Rubboli G., Lo Russo G., Guerrini Renzo, Tinuper P., Cardinale F., Cossu M., Epilepsy the Commission for Epilepsy Surgery of the Italian League AgainstEPILEPSIA10.1111/epi.13866
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Linea Guida. Il trattamento dell'epilessia in età pediatrica. Società Italiana di Neuropsichiatria Infantile e dell'Adolescenza.Guerrini Renzo, Ferrari Anna Rita, Sicca Federico00
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Auditory Sensitivity and Decision Criteria Oscillate at Different Frequencies Separately for the Two EarsHo Hao Tam, Leung Johahn, Burr David C., Alais David, Morrone Maria ConcettaCURRENT BIOLOGY10.1016/j.cub.2017.10.017
A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotypeIapadre Giulia, Morana Giovanni, Vari Maria Stella, Pinto Francesca, Lanteri Paola, Tessa Alessandra, Santorelli Filippo Maria, Striano Pasquale, Verrotti AlbertoEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY10.1016/j.ejpn.2017.12.020
A Child With Ichthyosis and Liver FailureIndolfi Giuseppe, Iascone Maria, Remaschi Giulia, Donati Maria Alice, Nesti Claudia, Rubegni Anna, Pezzoli Laura, Buccoliero Anna Maria, Santorelli Filippo Maria, Resti MassimoJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION10.1097/MPG.0000000000001645
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Development of the Hand Assessment for Infants evidence of internal scale validityKrumlinde-Sundholm Lena, Ek Linda, Sicola Elisa, Sj¿¿strand Lena, Guzzetta Andrea, Sgandurra Giuseppina, Cioni Giovanni, Eliasson Ann ChristinDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13585
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos SyndromeLaccetta Gianluigi, Moscuzza Francesca, Michelucci Angela, Guzzetta Andrea, Lunardi Sara, Lorenzoni Francesca, Ghirri PaoloFrontiers in Pediatrics10.3389/fped.2017.00236
The impact of white matter fiber orientation in single-acquisition quantitative susceptibility mappingLancione Marta, Tosetti Michela, Donatelli Graziella, Cosottini Mirco, Costagli MauroNMR IN BIOMEDICINE10.1002/nbm.3798
Relationships Between Morphologic and Functional Patterns in the Polymicrogyric CortexLenge Matteo, Barba Carmen, Montanaro Domenico, Aghakhanyan Gayane, Frijia Francesca, Guerrini RenzoCEREBRAL CORTEX10.1093/cercor/bhx036
Pharmacotherapy of emotional dysregulation in adults with ADHD A systematic review and meta-analysisLenzi Francesca, Cortese Samuele, Harris Joseph, Masi GabrieleNEUROSCIENCE AND BIOBEHAVIORAL REVIEWS10.1016/j.neubiorev.2017.08.010
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Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VIManganelli F., Parisi S., Nolano M., Tao F., Paladino S., Pisciotta C., Tozza S., Nesti Claudia, Rebelo A.P., Provitera V., Santorelli Filippo Maria, Shy M.E., Russo T., Zuchner S., Santoro L.NEUROLOGY10.1212/WNL.0000000000003992
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal DystrophyMascalchi Mario, Mari Francesco, Berti Beatrice, Bartolini Emanuele, Lenge Matteo, Bianchi Andrea, Antonucci Laura, Santorelli Filippo Maria, Garavaglia Barbara, Guerrini RenzoCEREBELLUM10.1007/s12311-017-0843-z
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Plasticity of the human visual brain after an early cortical lesionMikellidou K., Arrighi R., Aghakhanyan G., Tinelli Francesca, Frijia F., Crespi S., De Masi F., Montanaro D., Morrone Maria ConcettaNEUROPSYCHOLOGIA10.1016/j.neuropsychologia.2017.10.033
Area Prostriata in the Human BrainMikellidou Kyriaki, Kurzawski Jan W., Frijia Francesca, Montanaro Domenico, Greco Vincenzo, Burr David C., Morrone Maria ConcettaCURRENT BIOLOGY10.1016/j.cub.2017.08.065
Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletionMilone Roberta, Valetto Angelo, Bertini Veronica, Sicca FedericoEPILEPTIC DISORDERS10.1684/epd.2017.0909
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvementMissaglia Sara, Maggi Lorenzo, Mora Marina, Gibertini Sara, Blasevich Flavia, Agostoni Piergiuseppe, Moro Laura, cassandrini denise alessandra, Santorelli Filippo Maria, Gerevini Simonetta, Tavian DanielaNEUROMUSCULAR DISORDERS10.1016/j.nmd.2017.01.011
Olfactory Processing in Male Children with Autism Atypical Odor Threshold and IdentificationMuratori Filippo, Tonacci Alessandro, Billeci Lucia, Catalucci Tiziana, Igliozzi Roberta, Calderoni Sara, Narzisi AntonioJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS10.1007/s10803-017-3250-x
Evaluation of Improvement in Externalizing Behaviors and Callous-Unemotional Traits in Children with Disruptive Behavior Disorder A 1-Year Follow Up Clinic-Based StudyMuratori Pietro, Milone Annarita, Manfredi Azzurra, Polidori Lisa, Ruglioni Laura, Lambruschi Furio, Masi Gabriele, Lochman John EAdministration and Policy in Mental Health and Mental Health Services Research10.1007/s10488-015-0660-y
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Early, accurate diagnosis and early intervention in cerebral palsy Advances in diagnosis and treatmentNovak Iona, Morgan Cathy, Adde Lars, Blackman James, Boyd Roslyn N., Brunstrom-Hernandez Janice, Cioni Giovanni, Damiano Diane, Darrah Johanna, Eliasson Ann Christin, De Vries Linda S., Einspieler Christa, Fahey Michael, Fehlings Darcy, Ferriero Donna M., Fetters Linda, Fiori Simona, Forssberg Hans, Gordon Andrew M., Greaves Susan, Guzzetta Andrea, Hadders-Algra Mijna, Harbourne Regina, Kakooza-Mwesige Angelina, Karlsson Petra, Krumlinde-Sundholm Lena, Latal Beatrice, Loughran-Fowlds Alison, Maitre Nathalie, McIntyre Sarah, Noritz Garey, Pennington Lindsay, Romeo Domenico M., Shepherd Roberta, Spittle Alicia J., Thornton Marelle, Valentine Jane, Walker Karen, White Robert, Badawi NadiaJAMA Pediatrics10.1001/jamapediatrics.2017.1689
Revisiting mitochondrial ocular myopathies a study from the Italian NetworkOrsucci D., Angelini C., Bertini E., Carelli V., Comi G. P., Federico A., Minetti C., Moggio M., Mongini T., Santorelli Filippo Maria, Servidei S., Tonin P., Ardissone A., Bello L., Bruno C., Ienco E. Caldarazzo, Diodato D., Filosto M., Lamperti C., Moroni I., Musumeci O., Pegoraro E., Primiano G., Ronchi D., Rubegni Anna, Salvatore S., Sciacco M., Valentino M. L., Vercelli L., Toscano A., Zeviani M., Siciliano G., Mancuso M.JOURNAL OF NEUROLOGY10.1007/s00415-017-8567-z
Moral disengagement and callous unemotional traits configurations in adolescents with disruptive behavior disorder A person-oriented approachPaciello Marinella, Masi Gabriele, Clemente Maria Grazia, Milone Annarita, Muratori PietroPSYCHIATRY RESEARCH10.1016/j.psychres.2017.08.043
Identifying relevant biomarkers of brain injury from structural MRI Validation using automated approaches in children with unilateral cerebral palsyPagnozzi Alex M., Dowson Nicholas, Doecke James, Fiori Simona, Bradley Andrew P., Boyd Roslyn N., Rose StephenPLoS One10.1371/journal.pone.0181605
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The networks of genes encoding palmitoylated proteins in axonal and synaptic compartments are affected in PPT1 overexpressing neuronal-like cellsPezzini Francesco, Bianchi Marzia, Benfatto Salvatore, Griggio Francesca, Doccini Stefano, Carrozzo Rosalba, Dapkunas Arvydas, Delledonne Massimo, Santorelli Filippo Maria, Lalowski Maciej M., Simonati AlessandroFrontiers in Molecular Neuroscience10.3389/fnmol.2017.00266
Conduct disorders and psychopathy in children and adolescents Aetiology, clinical presentation and treatment strategies of callous-unemotional traitsPisano Simone, Muratori Pietro, Gorga Chiara, Levantini Valentina, Iuliano Raffaella, Catone Gennaro, Coppola Giangennaro, Milone Annarita, Masi GabrieleItalian Journal of Pediatrics10.1186/s13052-017-0404-6
Putative mechanisms of action and clinical use of lithium in children and adolescents a critical reviewPisano Simone, Pozzi Marco, Catone Gennaro, Scrinzi Giulia, Clementi Emilio, Coppola Giangennaro, Milone Annarita, Bravaccio Carmela, Santosh Paramala, Masi GabrieleCurrent Neuropharmacology10.2174/1570159X16666171219142120
Can melatonin prevent or improve metabolic side effects during antipsychotic treatments?Porfirio Maria Cristina, De Almeida Juliana Paula Gomes, Stornelli Maddalena, Giovinazzo Silvia, Purper-Ouakil Diane, Masi GabrieleNeuropsychiatric Disease and Treatment10.2147/NDT.S127564
Behavioral Phenotype of ASD Preschoolers with Gastrointestinal Symptoms or Food SelectivityProsperi Margherita, Santocchi Elisa, Balboni Giulia, Narzisi Antonio, Bozza Margherita, Fulceri Francesca, Apicella Fabio, Igliozzi Roberta, Cosenza Angela, Tancredi Raffaella, Calderoni Sara, Muratori FilippoJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS10.1007/s10803-017-3271-5
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ARIANNA A research environment for neuroimaging studies in autism spectrum disordersRetico Alessandra, Arezzini Silvia, Bosco Paolo, Calderoni Sara, Ciampa Alberto, Coscetti Simone, Cuomo Stefano, De Santis Luca, Fabiani Dario, Fantacci Maria Evelina, Giuliano Alessia, Mazzoni Enrico, Mercatali Pietro, Miscali Giovanni, Pardini Massimiliano, Prosperi Margherita, Romano Francesco, Tamburini Elena, Tosetti Michela, Muratori FilippoCOMPUTERS IN BIOLOGY AND MEDICINE10.1016/j.compbiomed.2017.05.017
Characterization of high-resolution Gradient Echo and Spin Echo EPI for fMRI in the human visual cortex at 7ÿ TRua Catarina, Costagli Mauro, Symms Mark Roger, Biagi Laura, Donatelli Graziella, Cosottini Mirco, Del Guerra Alberto, Tosetti MichelaMAGNETIC RESONANCE IMAGING10.1016/j.mri.2017.04.008
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Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Rubegni Anna, Pisano Tiziana, Bacci Giacomo, Tessa Alessandra, Battini Roberta, Procopio Elena, Giglio Sabrina, Pasquariello Rosa, Santorelli Filippo Maria, Guerrini Renzo, Nesti ClaudiaEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY10.1016/j.ejpn.2017.04.004
Response to the letter to the Editor regarding â⿬ſLeigh-like neuroimaging features associated with new bi-allelic mutations in OPA1â⿬¿Rubegni Anna, Pisano Tiziana, Nesti Claudia, Guerrini Renzo, Santorelli Filippo MariaEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY10.1016/j.ejpn.2017.06.005
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findingsRuggiero Lucia, Fiorillo Chiara, Nesti Claudia, Manganelli Fiore, Iodice Rosa, Esposito Marcello, Santorelli Filippo Maria, Santoro LucioJOURNAL OF NEUROLOGY10.1007/s00415-017-8409-z
Reduced preference for social rewards in a novel tablet based task in young children with Autism Spectrum DisordersRUTA LILIANA, Fam¿¿ Francesca Isabella, Bernava Giuseppe Massimo, Leonardi Elisa, Tartarisco Gennaro, Falzone Alessandra, Pioggia Giovanni, Chakrabarti BhismadevScientific Reports10.1038/s41598-017-03615-x
Temporally evolving gain mechanisms of attention in macaque area V4Sani Ilaria, Santandrea Elisa, Morrone Maria Concetta, Chelazzi LeonardoJOURNAL OF NEUROPHYSIOLOGY10.1152/jn.00522.2016
Electrophysiological and microstructural features of sleep inÿ childrenÿ at high risk for depression a preliminary studySesso Gianluca, Bat-Pitault Flora, Guyon Aurore, Plancoulaine Sabine, Banfi Tommaso, Milioli Giulia, Parrino Liborio, Faraguna Ugo, Franco PatriciaSLEEP MEDICINE10.1016/j.sleep.2017.05.013
Congenital muscular dystrophies in the UK population Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodSframeli Maria, Sarkozy Anna, Bertoli Marta, Astrea Guja, Hudson Judith, Scoto Mariacristina, Mein Rachael, Yau Michael, Phadke Rahul, Feng Lucy, Sewry Caroline, Fen Adeline Ngoh Seow, Longman Cheryl, McCullagh Gary, Straub Volker, Robb Stephanie, Manzur Adnan, Bushby Kate, Muntoni FrancescoNEUROMUSCULAR DISORDERS10.1016/j.nmd.2017.06.008
A randomized clinical trial in preterm infants on the effects of a home-based early intervention with the 'CareToy System'Sgandurra Giuseppina, Lorentzen Jakob, Inguaggiato Emanuela, Bartalena Laura, Beani Elena, Cecchi Francesca, Dario Paolo, Giampietri Matteo, Greisen Gorm, Herskind Anna, Nielsen Jens Bo, Rossi Giuseppe, Cioni GiovanniPLoS One10.1371/journal.pone.0173521
Inter and intra-rater reliability and minimal detectable difference of movement disorder-childhood rating scaleSgandurra Giuseppina, Olivieri Ilaria, Casarano Manuela, DI Pietro Roberta, Menici Valentina, Velli Chiara, Sini Francesca, Lucibello Simona, Romeo Domenico M, Cioni Giovanni, Battini RobertaEuropean Journal of Physical and Rehabilitation Medicine10.23736/S1973-9087.17.04661-5
Cognitive outcome after epilepsy surgery in children A controlled longitudinal studySibilia Valentina, Barba Carmen, Metitieri Tiziana, Michelini Giovanni, Giordano Flavio, Genitori Lorenzo, Guerrini RenzoEPILEPSY & BEHAVIOR10.1016/j.yebeh.2017.03.001
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5Simonati Alessandro, Williams Ruth E., Nardocci Nardo, Laine Minna, Battini Roberta, Schulz Angela, Garavaglia Barbara, Moro Francesca, Pezzini Francesco, Santorelli Filippo MariaDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13473
A Degenerate Birdcage with Integrated Tx/Rx Switches and Butler Matrix for the Human Limbs at 7ÿ TStara Riccardo, Tiberi Gianluigi, Morsani Fabio, Symms Mark Roger, Fantacci Maria Evelina, Marletta Massimo, Zampa Virna, Pendse Mihir, Retico Alessandra, Rutt Brian K., Tosetti MichelaAPPLIED MAGNETIC RESONANCE10.1007/s00723-017-0864-2
Delineating SPTAN1 associated phenotypes From isolated epilepsy to encephalopathy with progressive brain atrophySyrbe Steffen, Harms Frederike L., Parrini Elena, Montomoli Martino, M¿¿tze Ulrike, Helbig Katherine L., Polster Tilman, Albrecht Beate, Bernbeck Ulrich, Van Binsbergen Ellen, Biskup Saskia, Burglen Lydie, Denecke Jonas, Heron B¿¿n¿¿dicte, Heyne Henrike O., Hoffmann Georg F., Hornemann Frauke, Matsushige Takeshi, Matsuura Ryuki, Kato Mitsuhiro, Korenke G. Christoph, Kuechler Alma, L¿¿mmer Constanze, Merkenschlager Andreas, Mignot Cyril, Ruf Susanne, Nakashima Mitsuko, Saitsu Hirotomo, Stamberger Hannah, Pisano Tiziana, Tohyama Jun, Weckhuysen Sarah, Werckx Wendy, Wickert Julia, Mari Francesco, Verbeek Nienke E., M¿¿ller Rikke S., Koeleman Bobby, Matsumoto Naomichi, Dobyns William B., Lemke Johannes R., Kutsche Kerstin, Battaglia Domenica, Guerrini RenzoBRAIN10.1093/brain/awx195
Primary familial brain calcification with a novel SLC20A2 mutation Analysis of PiT-2 expression and localizationTaglia Ilaria, Formichi Patrizia, Battisti Carla, Peppoloni Giulia, Barghigiani Melissa, Tessa Alessandra, Federico AntonioJOURNAL OF CELLULAR PHYSIOLOGY10.1002/jcp.26104
Concentric muscle involvement in POLG-related distal myopathyTasca Giorgio, Monforte Mauro, Nesti Claudia, Santorelli Filippo Maria, Silvestri Gabriella, Ricci EnzoNEUROMUSCULAR DISORDERS10.1016/j.nmd.2017.03.001
Development and implementation of a new telerehabilitation system for audiovisual stimulation training in hemianopiaTinelli Francesca, Cioni Giovanni, Purpura GiuliaFrontiers in Neurology10.3389/fneur.2017.00621
Visual information from observing grasping movement in allocentric and egocentric perspectives development in typical childrenTinelli Francesca, Cioni Giovanni, Sandini Giulio, Turi Marco, Morrone Maria ConcettaEXPERIMENTAL BRAIN RESEARCH10.1007/s00221-017-4944-1
A systematic review of the association between allergic asthma and autismTonacci Alessandro, Billeci Lucia, RUTA LILIANA, Tartarisco Gennaro, Pioggia Giovanni, Gangemi SebastianoMINERVA PEDIATRICA10.23736/S0026-4946.16.04623-5
Short-Term Effects of Chewing on Task Performance and Task-Induced Mydriasis Trigeminal Influence on the Arousal SystemsTramonti Fantozzi Maria Paola, De Cicco Vincenzo, Barresi Massimo, Cataldo Enrico, Faraguna Ugo, Bruschini Luca, Manzoni DiegoFrontiers in Neuroanatomy10.3389/fnana.2017.00068
Autism is associated with reduced ability to interpret grasping actions of othersTuri Marco, Muratori Filippo, Tinelli Francesca, Morrone Maria Concetta, Burr David C.Scientific Reports10.1038/s41598-017-12995-z
Cortical and Subcortical Brain Morphometry Differences Between Patients With Autism Spectrum Disorder and Healthy Individuals Across the Lifespan Results From the ENIGMA ASD Working Groupvan Rooij Daan, Anagnostou Evdokia, Arango Celso, Auzias Guillaume, Behrmann Marlene, Busatto Geraldo F, Calderoni Sara, Daly Eileen, Deruelle Christine, Di Martino Adriana, Dinstein Ilan, Duran Fabio Luis Souza, Durston Sarah, Ecker Christine, Fair Damien, Fedor Jennifer, Fitzgerald Jackie, Freitag Christine M, Gallagher Louise, Gori Ilaria, Haar Shlomi, Hoekstra Liesbeth, Jahanshad Neda, Jalbrzikowski Maria, Janssen Joost, Lerch Jason, Luna Beatriz, Martinho Mauricio Moller, McGrath Jane, Muratori Filippo, Murphy Clodagh M, Murphy Declan G M, O'Hearn Kirsten, Oranje Bob, Parellada Mara, Retico Alessandra, Rossa Pedro, Rubia Katya, Shook Devon, Taylor Margot, Thompson Paul M, Tosetti Michela, Wallace Gregory L, Zhou Fengfeng, Buitelaar Jan KAMERICAN JOURNAL OF PSYCHIATRY10.1176/appi.ajp.2017.17010100
Implicit learning deficit in children with Duchenne muscular dystrophy Evidence for a cerebellar cognitive impairment?Vicari Stefano, Piccini Giorgia, Mercuri Eugenio, Battini Roberta, Chieffo Daniela, Bulgheroni Sara, Pecini Chiara, Lucibello Simona, Lenzi Sara, Moriconi Federica, Pane Marika, D¿¿¿Amico Adele, Astrea Guja, Baranello Giovanni, Riva Daria, Cioni Giovanni, Alfieri PaoloPLoS One10.1371/journal.pone.0191164
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disordersWeiner Daniel J., Wigdor Emilie M., Ripke Stephan, Walters Raymond K., Kosmicki Jack A., Grove Jakob, Samocha Kaitlin E., Goldstein Jacqueline I., Okbay Aysu, Bybjerg-Grauholm Jonas, Werge Thomas, Hougaard David M., Taylor Jacob, Skuse David, Devlin Bernie, Anney Richard, Sanders Stephan J., Bishop Somer, Mortensen Preben Bo, B¿¿rglum Anders D., Smith George Davey, Daly Mark J., Robinson Elise B., B¿¿kvad-Hansen Marie, Dumont Ashley, Hansen Christine S., Hansen Thomas F., Howrigan Daniel, Mattheisen Manuel, Moran Jennifer, Mors Ole, Nordentoft Merete, N¿¿rgaard-Pedersen Bent, Poterba Timothy, Poulsen Jesper, Stevens Christine, Anttila Verneri, Holmans Peter, Huang Hailiang, Klei Lambertus, Lee Phil H., Medland Sarah E., Neale Benjamin, Weiss Lauren A., Zwaigenbaum Lonnie, Yu Timothy W., Wittemeyer Kerstin, Willsey A. Jeremy, Wijsman Ellen M., Battaglia Agatino, Psychiatric Genomics Consortium Autism Group Gruppo, iPSYCH-Broad Autism Group GruppoNATURE GENETICS10.1038/ng.3863
Experimental setup to compare measurements and numerical simulations in magnetic resonance imaging RF dosimetryZanovello Umberto, Borsero Michele, Giordano Domenico, Zilberti Luca, Maggiorelli Francesca, Tiberi GianluigiIEEE TRANSACTIONS ON INSTRUMENTATION AND MEASUREMENT10.1109/TIM.2017.2687138
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutationsZhu Xiaolin, Padmanabhan Raghavendra, Copeland Brett, Bridgers Joshua, Ren Zhong, Kamalakaran Sitharthan, O'Driscoll-Collins Ailbhe, Berkovic Samuel F., Scheffer Ingrid E., Poduri Annapurna, Mei Davide, Guerrini Renzo, Lowenstein Daniel H., Allen Andrew S., Heinzen Erin L., Goldstein David B.PLoS Genetics10.1371/journal.pgen.1007104
Perception during double-step saccadesZimmermann E., Morrone Maria Concetta, Binda P.Scientific Reports10.1038/s41598-017-18554-w
TitoloAutoriTestataDOI
Spelling impairments in Italian dyslexic children with and without a history of early language delay. Are there any differences?Angelelli Paola, Marinelli Chiara Valeria, Iaia Marika, Putzolu Anna, Gasperini Filippo, Brizzolara Daniela, chilosi annaFrontiers in Psychology10.3389/fpsyg.2016.00527
A shared numerical representation for action and perceptionAnobile Giovanni, Arrighi Roberto, Togoli Irene, Burr David CharleseLife10.7554/eLife.16161.001
Numerosity but not texture-density discrimination correlates with math ability in childrenAnobile Giovanni, Castaldi Elisa, Turi Marco, Tinelli Francesca, Burr David C.DEVELOPMENTAL PSYCHOLOGY10.1037/dev0000155
Be aware of Wolfram syndrome when examining ataxic patientsAntenora Antonella, Lieto Maria, Santorelli Filippo Maria, Peluso Silvio, Saccà Francesco, de Michele Giuseppe, Filla AlessandroJOURNAL OF NEUROLOGY10.1007/s00415-016-8199-8
Myoimaging in the NGS era The discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features -a case reportAstrea Guja, Petrucci Antonio, cassandrini denise alessandra, Savarese Marco, Trovato Rosanna, Lispi Ludovico, Rubegni Anna, Giacanelli Manlio, Massa Roberto, Nigro Vincenzo, Santorelli Filippo MariaBMC Medical Genetics10.1186/s12881-016-0288-0
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvementAstrea Guja, Pezzini Ilaria, Picillo Ester, Pasquariello Rosa, Moro Francesca, Ergoli Manuela, D'Ambrosio Paola, D'Amico Adele, Politano Luisa, Santorelli Filippo MariaNEUROMUSCULAR DISORDERS10.1016/j.nmd.2016.05.003
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancyBarba Carmen, Darra Francesca, Cusmai Raffaella, Procopio Elena, Dionisi Vici Carlo, Keldermans Liesbeth, Vuillaumier-Barrot Sandrine, Lefeber Dirk J., Guerrini Renzo, CDG Group GruppoDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13141
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain agingBaroncelli Laura, Molinaro Angelo, Cacciante Francesco, Alessandrì Maria Grazia, Napoli Debora, Putignano Elena, Tola Jonida, Leuzzi Vincenzo, Cioni Giovanni, Pizzorusso TommasoHUMAN MOLECULAR GENETICS10.1093/hmg/ddw252
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWSBartolini Emanuele, Falchi Melania, Zellini Francesco, Parrini Elena, Grisotto L., Cosottini Mirco, Posar Annio, Parmeggiani A., Ambrosetto G., Ferrari Anna Rita, Santucci Margherita, Salas-Puig Javier, Barba Carmen, Guerrini RenzoNEUROLOGY10.1212/WNL.0000000000002526
Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndromeBattaglia Agatino, Bernardini Laura, Torrente Isabella, Novelli Antonio, Scarselli GloriaAMERICAN JOURNAL OF MEDICAL GENETICS PART A10.1002/ajmg.a.37844
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaBauché Stéphanie, O'Regan Seana, Azuma Yoshiteru, Laffargue Fanny, McMacken Grace, Sternberg Damien, Brochier Guy, Buon Céline, Bouzidi Nassima, Topf Ana, Lacÿne Emmanuelle, Remerand Ganaelle, Beaufrere Anne Marie, Pebrel-Richard Céline, Thevenon Julien, El Chehadeh-Djebbar Salima, Faivre Laurence, Duffourd Yannis, Ricci Federica, Mongini Tiziana, FIORILLO CHIARA, Astrea Guja, Burloiu Carmen Magdalena, Butoianu Niculina, Sandu Carmen, Servais Laurent, Bonne Gisÿle, Nelson Isabelle, Desguerre Isabelle, Nougues Marie Christine, Bſuf Benoit, Romero Norma B., Laporte Jocelyn, Boland Anne, Lechner Doris, Deleuze Jean François, Fontaine Bertrand, Strochlic Laure, Lochmuller Hanns, Eymard Bruno, Mayer Michÿle, Nicole SophieAMERICAN JOURNAL OF HUMAN GENETICS10.1016/j.ajhg.2016.06.033
Anticipatory control and spatial cognition in locomotion and navigation through typical development and in cerebral palsyBelmonti Vittorio, Cioni Giovanni, Berthoz AlainDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13044
Rhythmic modulation of visual contrast discrimination triggered by actionBenedetto Alessandro, Spinelli Donatella, Morrone Maria ConcettaPHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES10.1098/rspb.2016.0692
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)Berkovic Samuel F., Staropoli John F., Carpenter Stirling, Oliver Karen L., Kmoch Stanislav, Anderson Glenn W, Damiano John A, Hildebrand Michael S., Sims Katherine B., Cotman Susan L, Bahlo Melanie, Smith Katherine R., Cadieux-Dion Maxime, Cossette Patrick, Jedličková Ivana, Pſistoupilová Anna, Mole Sara E., ANCL Gene Discovery Consortium Gruppo, Santorelli Filippo MariaNEUROLOGY10.1212/WNL.0000000000002943
Manual function outcome measures in children with developmental coordination disorder (DCD) Systematic reviewBIEBER ELEONORA, Smits-Engelsman Bouwien C M, Sgandurra Giuseppina, Cioni Giovanni, Feys Hilde, Guzzetta Andrea, Klingels KatrijnRESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.03.009
Disentangling the initiation from the response in joint attention An eye-tracking study in toddlers with autism spectrum disordersBilleci L., Narzisi Antonio, Campatelli Giulia, Crifaci Giulia, Calderoni Sara, Gagliano A., Calzone C., Colombi C., Pioggia G., Muratori Filippo, ALERT group Gruppo, Fulceri FrancescaTranslational Psychiatry10.1038/tp.2016.75
An Integrated Approach for the Monitoring of Brain and Autonomic Response of Children with Autism Spectrum Disorders during Treatment by Wearable Technologies.Billeci L., Tonacci A., Tartarisco G., Narzisi Antonio, Di Palma S., Corda D., Baldus G., Cruciani F., Anzalone SM., Calderoni Sara, Pioggia G., Muratori FilippoFrontiers in Neuroscience10.3389/fnins.2016.00276
The Broad Autism (Endo)Phenotype Neurostructural and neurofunctional correlates in parents of individuals with autism spectrum disordersBilleci Lucia, Calderoni Sara, Conti Eugenia, Gesi Camilla, Carmassi Claudia, Dell'Osso Liliana, Cioni Giovanni, Muratori Filippo, Guzzetta AndreaFrontiers in Neuroscience10.3389/fnins.2016.00346
Reply to Fluegge Association Between Atopic Dermatitis and Autism Spectrum Disorders: A Systematic ReviewBilleci Lucia, Tonacci Alessandro, Tartarisco Gennaro, RUTA LILIANA, Pioggia Giovanni, Gangemi SebastianoAMERICAN JOURNAL OF CLINICAL DERMATOLOGY10.1007/s40257-016-0181-9
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features Clinical-genetic characterization of the family and review of the literatureBonuccelli Alice, Valetto Angelo, Orsini Alessandro, Michelucci Angela, Ferrari Anna Rita, Elia Maurizio, Bertini VeronicaAMERICAN JOURNAL OF MEDICAL GENETICS PART A10.1002/ajmg.a.38039
Cognitive, adaptive, and behavioral features in Joubert syndromeBulgheroni Sara, D'Arrigo Stefano, Signorini Sabrina Giovanna, Briguglio Marilena, Di Sabato M. L., Casarano Manuela, Mancini Francesca, Romani Marta, Alfieri Paolo, Battini Roberta, Zoppello M., Tortorella G., Bertini Enrico Silvio, Leuzzi Vincenzo, Valente Enza Maria, Riva DariaAMERICAN JOURNAL OF MEDICAL GENETICS PART A10.1002/ajmg.a.37938
Action observation in infancy Implications for neuro-rehabilitationBurzi Valentina, Tealdi Gessica, Boyd Roslyn N., Guzzetta AndreaDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13048
Early prediction of typical outcome and mild developmental delay for prioritisation of service delivery for very preterm and very low birthweight infants A study protocolCaesar Rebecca, Boyd Roslyn N., Colditz Paul, Cioni Giovanni, Ware Robert S., Salthouse Kaye, Doherty Julie, Jackson Maxine, Matthews Leanne, Hurley Tom, Morosini Anthony, Thomas Clare, Camadoo Laxmi, Baer EricaBMJ Open10.1136/bmjopen-2015-010726
Rehabilitative interventions and brain plasticity in autism spectrum disorders Focus on MRI-based studiesCalderoni Sara, Billeci Lucia, Narzisi Antonio, Brambilla Paolo, Retico Alessandra, Muratori FilippoFrontiers in Neuroscience10.3389/fnins.2016.00139
Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum DisorderCalderoni Sara, Santocchi Elisa, Del Bianco Teresa, Brunori Elena, Caponi Laura, Paolicchi Aldo, Fulceri Francesca, Prosperi Margherita, Narzisi Antonio, Cosenza Angela, Tancredi Raffaella, Muratori FilippoItalian Journal of Pediatrics10.1186/s13052-016-0308-x
Effects of adaptation on numerosity decoding in the human brainCastaldi E., Aagten-Murphy D., Tosetti Michela, Burr D., Morrone Maria ConcettaNEUROIMAGE10.1016/j.neuroimage.2016.09.020
Visual BOLD Response in Late Blind Subjects with Argus II Retinal ProsthesisCastaldi E., Cicchini G. M., Cinelli L., Biagi Laura, Rizzo S., Morrone Maria ConcettaPLOS BIOLOGY10.1371/journal.pbio.1002569
Recommendations for the rehabilitation of children with cerebral palsyCastelli E., Fazzi E., Alboresi S., Armando M., Battisti Nicolò, Carboni E., Cazzagon M., Cersosimo A., Dalla Torre Liliana, Ferrari A., Gambini D., Giampaoli Giancarla, Maltoni Paolo, Marucco Anna, Marconi R., Morelli D., Pignatelli S., Rubini P. G., Trevisi E., Turconi A.-C., Trabacca A., Cioni Giovanni, Folegani Patrizia, Giannini Maria T., Luparia A., Landi Nicola, Mangione D., Marcelli M., Militerni Roberto, Pagliano E., Paolicelli Paola Bruna, Sales B., Scuccimarra Goffredo, Sgandurra Giuseppina, Tornetta LorellaEuropean Journal of Physical and Rehabilitation Medicine0
CareToy An Intelligent Baby Gym for Intervention at Home in Infants at Risk for Neurodevelopmental DisordersCecchi Francesca, Sgandurra Giuseppina, Mihelj Matjaz, Mici Luiza, Zhang Jianwei, Munih Marko, Cioni Giovanni, Laschi Cecilia, Dario PaoloIEEE ROBOTICS & AUTOMATION MAGAZINE10.1109/MRA.2015.2506058
Pre-linguistic vocal trajectories at 6-18 months of age as early markers of autismChericoni Natasha, De Brito Wanderley Daniele, COSTANZO VALERIA, Diniz-Gonçalves Andréa, Gille Marluce Leitgel, Parlato Erika, Cohen David J., Apicella Fabio, Calderoni Sara, Muratori FilippoFrontiers in Psychology10.3389/fpsyg.2016.01595
Spontaneous perception of numerosity in humansCicchini Guido Marco, Anobile Giovanni, Burr David C.Nature Communications10.1038/ncomms12536
Early intervention in neurodevelopmental disorders Underlying neural mechanismsCioni Giovanni, Inguaggiato Emanuela, Sgandurra GiuseppinaDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13050
Relationship between brain lesion characteristics and communication in preschool children with cerebral palsyColeman Andrea, Fiori Simona, Weir Kelly A., Ware Robert S., Boyd Roslyn N.RESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.08.015
The social effect of "being imitated" in children with autism spectrum disorderContaldo Annarita, Colombi Costanza, Narzisi Antonio, Muratori FilippoFrontiers in Psychology10.3389/fpsyg.2016.00726
Functional Decoding and Meta-analytic Connectivity Modeling in Adult Attention-Deficit/Hyperactivity DisorderCortese Samuele, Castellanos F. Xavier, Eickhoff Claudia R., D'Acunto Maria Giulia, Masi Gabriele, Fox Peter T, Laird Angela R., Eickhoff Simon B.BIOLOGICAL PSYCHIATRY10.1016/j.biopsych.2016.06.014
Magnetic susceptibility in the deep layers of the primary motor cortex in Amyotrophic Lateral SclerosisCostagli Mauro, Donatelli G., Biagi Laura, Caldarazzo Ienco E., Siciliano G., Tosetti Michela, Cosottini M.NeuroImage-Clinical10.1016/j.nicl.2016.04.011
Novel POLG mutations and variable clinical phenotypes in 13 Italian patientsDa Pozzo Paola, Cardaioli Elena, Rubegni Anna, Gallus Gian Nicola, Malandrini Alessandro, Rufa Alessandra, Battisti Carla, Carluccio Maria Alessandra, Rocchi Raffaele, Giannini Fabio, Bianchi Amedeo, Mancuso Michelangelo, Siciliano Gabriele, Dotti Maria Teresa, Federico AntonioNEUROLOGICAL SCIENCES10.1007/s10072-016-2734-3
7T MRI in focal epilepsy with unrevealing conventional field strength imagingDe Ciantis Alessio, Barba Carmen, Tassi Laura, Cosottini Mirco, Tosetti Michela, Costagli Mauro, Bramerio Manuela, Bartolini Emanuele, Biagi Laura, Cossu Massimo, Pelliccia Veronica, Symms Mark R., Guerrini RenzoEPILEPSIA10.1111/epi.13313
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesionsDenora Paola S., Smets Katrien, Zolfanelli Federica, Groote Chantal Ceuterick De, Casali Carlo, Deconinck Tine, Sieben Anne, Gonzales Michael, Zuchner Stephan, Darios Frederic, Peeters Dirk, Brice Alexis, Malandrini Alessandro, De Jonghe Peter, Santorelli Filippo M., Stevanin Giovanni, Martin Jean Jacques, El Hachimi Khalid H.BRAIN10.1093/brain/aww061
Hereditary spastic paraplegia pathology, genetics and therapeutic prospectsDi Fabio Roberto, storti eugenia, Tessa Alessandra, Pierelli Francesco, Morani Federica, Santorelli Filippo MariaExpert Opinion on Orphan Drugs10.1517/21678707.2016.1153964
Difference in Visual Social Predispositions between Newborns at Low-and High-risk for AutismDi Giorgio Elisa, Frasnelli Elisa, Rosa Salva Orsola, Maria Luisa Scattoni, Puopolo Maria, Tosoni Daniela, Simion Francesca, Vallortigara Giorgio, Apicella Fabio, Gagliano Antonella, Guzzetta Andrea, Molteni Massimo, Persico Antonio, Pioggia Giovanni, Valeri Giovanni, Vicari StefanoScientific Reports10.1038/srep26395
Spastic diplegia in preterm-born children Executive function impairment and neuroanatomical correlatesDi Lieto Maria Chiara, BROVEDANI PAOLA, Pecini Chiara, chilosi anna, Belmonti Vittorio, Fabbro Franco, Urgesi Cosimo, Fiori Simona, Guzzetta Andrea, perazza silvia, Sicola Elisa, Cioni GiovanniRESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.12.006
Monitoring of autonomic response to sociocognitive tasks during treatment in children with Autism Spectrum Disorders by wearable technologies A feasibility studyDi Palma Simone, Tonacci Alessandro, Narzisi Antonio, Domenici Claudio, Pioggia Giovanni, Muratori Filippo, Billeci Lucia, MICHELANGELO study group Gruppo, Apicella FabioCOMPUTERS IN BIOLOGY AND MEDICINE10.1016/j.compbiomed.2016.04.001
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSDDoccini Stefano, Sartori Stefano, Maeser Stefan, Pezzini Francesco, Rossato Sara, Moro Francesca, Toldo Irene, Przybylski Michael, Santorelli Filippo Maria, Simonati AlessandroJOURNAL OF NEUROLOGY10.1007/s00415-016-8111-6
Neuroanatomical correlates of childhood apraxia of speech A connectomic approachFiori Simona, Guzzetta Andrea, Mitra Jhimli, Pannek Kerstin, Pasquariello Rosa, Cipriani Paola, Tosetti Michela, Cioni Giovanni, Rose Stephen E., Chilosi AnnaNeuroImage-Clinical10.1016/j.nicl.2016.11.003
MYH7-related myopathies Clinical, histopathological and imaging findings in a cohort of Italian patientsFIORILLO CHIARA, Astrea Guja, Savarese M., cassandrini denise alessandra, Brisca G., Trucco F., Pedemonte M., Trovato Rosanna, Ruggiero Lucia, Vercelli L., D‿Amico Adele, Tasca S., Pane M., Fanin M., Bello L., Broda P., Musumeci O., Rodolico C., Messina S., Vita G. L., Sframeli M., Gibertini S., Morandi L., Mora M., Maggi L., Petrucci A., Massa R., Grandis M., Toscano A., Pegoraro E., Mercuri E., Bertini E., Mongini T., Santoro L., Nigro V., Minetti C., Santorelli Filippo Maria, Bruno C.Orphanet Journal of Rare Diseases10.1186/s13023-016-0476-1
Beyond spinal muscular atrophy with lower extremity dominance Cerebellar hypoplasia associated with a novel mutation in BICD2FIORILLO CHIARA, Moro Francesca, Brisca G., Accogli A., Trucco F., Trovato Rosanna, Pedemonte M., Severino M., Catala M., Capra V., Santorelli Filippo Maria, Bruno C., Rossi A., Minetti C.EUROPEAN JOURNAL OF NEUROLOGY10.1111/ene.12914
Attitudes of the autism community to early autism researchFletcher-Watson Sue, Apicella Fabio, Auyeung Bonnie, Beranova Stepanka, Bonnet-Brilhault Frederique, Canal-Bedia Ricardo, Charman Tony, Chericoni Natasha, Conceição Inês C., Davies Kim, Farroni Teresa, Gomot Marie, Jones Emily, Kaale Anett, Kapica Katarzyna, Kawa Rafal, Kylliÿinen Anneli, Larsen Kenneth, Lefort-Besnard Jeremy, Malvy Joelle, Manso De Dios Sara, Markovska-Simoska Silvana, Millo Inbal, Miranda Natercia, Pasco Greg, Pisula Ewa, Raleva Marija, Rogé Bernadette, Salomone Erica, Schjolberg Synnve, Tomalski Przemysſaw, Vicente Astrid M., Yirmiya NuritAUTISM10.1177/1362361315626577
Nigral involvement in atypical parkinsonisms: evidence from a pilot study with ultra-high field MRI.Frosini D., Ceravolo R., Tosetti Michela, Bonuccelli U., Cosottini M.JOURNAL OF NEURAL TRANSMISSION10.1007/s00702-016-1529-2.
Skin Effect Estimation in Radiofrequency Coils for Nuclear Magnetic Resonance ApplicationsGiovannetti Giulio, Tiberi GianluigiAPPLIED MAGNETIC RESONANCE10.1007/s00723-016-0780-x
Epilepsy, behavioral abnormalities, and physiological comorbidities in syntaxin-binding protein 1 (STXBP1) mutant zebrafishGrone Brian P., Marchese Maria, Hamling Kyla R., Kumar Maneesh G., Krasniak Christopher S., Sicca Federico, Santorelli Filippo Maria, Patel Manisha, Baraban Scott C.PLoS One10.1371/journal.pone.0151148
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2‿2q11.2Henden Lyndal, Freytag Saskia, Afawi Zaid, Baldassari S., Berkovic Samuel F., Bisulli Francesca, Canafoglia Laura, Casari Giorgio Nevio, Crompton Douglas E., Depienne Christel, Gecz Joseph, Guerrini Renzo, Helbig Ingo, Hirsch E., Keren Boris, Klein Karl Martin, Labauge P., Leguern Eric, Licchetta Laura, Mei Davide, Nava Caroline, Pippucci T., Rudolf G., Scheffer Ingrid E., Striano Pasquale, Tinuper Paolo, Zara Federico, Corbett Mark A., Bahlo MelanieHUMAN GENETICS10.1007/s00439-016-1700-8
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsJenkinson Emma M., Rodero Mathieu P., Kasher Paul R., Uggenti Carolina, Oojageer Anthony, Goosey Laurence C., Rose Yoann, Kershaw Christopher J., Urquhart Jill E., Williams Simon G., Bhaskar Sanjeev S., O'Sullivan James, Baerlocher Gabriela M., Haubitz Monika, Aubert Geraldine, Barañano Kristin W., Barnicoat Angela J., Battini Roberta, Berger Andrea, Blair Edward M., Brunstrom-Hernandez Janice E., Buckard Johannes A., Cassiman David M., Caumes Rosaline, Cordelli Duccio M., De Waele Liesbeth M., Fay Alexander J., Ferreira Patrick, Fletcher Nicholas A., Fryer Alan E., Goel Himanshu, Hemingway Cheryl A., Henneke Marco, Hughes Imelda, Jefferson Rosalind J., Kumar Ram, Lagae Lieven, Landrieu Pierre G., Lourenço Charles M., Malpas Timothy J., Mehta Sarju G., Metz Imke, Naidu Sakkubai, ÿunap Katrin, Panzer Axel, Prabhakar Prab, Quaghebeur Gerardine, Schiffmann Raphael, Sherr Elliott H., Sinnathuray Kanaga R., Soh Calvin, Stewart Helen S., Stone John, Van Esch Hilde, Van Mol Christine E G, Vanderver Adeline, Wakeling Emma L., Whitney Andrea, Pavitt Graham D., Griffiths-Jones Sam, Rice Gillian I., Revy Patrick, Van Der Knaap Marjo S., Livingston John H., O'Keefe Raymond T., Crow Yanick J.NATURE GENETICS10.1038/ng.3661
Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: insight for Dravet syndrome Insight for Dravet syndromeKurbatova P., Wendling F., Kaminska A., Rosati A., Nabbout R., Guerrini Renzo, Dulac O., Pons G., Cornu C., Nony P., the CRESIM/EpiCRESIM Study Group Gruppo, Chiron C., Benquet PEXPERIMENTAL NEUROLOGY10.1016/j.expneurol.2016.05.037
PREMM Preterm early massage by the mother: Protocol of a randomised controlled trial of massage therapy in very preterm infantsLai Melissa M., D'Acunto Maria Giulia, Guzzetta Andrea, Boyd Roslyn, Rose Stephen, Fripp Jurgen, Finnigan Simon, Ngenda Naoni, Love Penny, Whittingham Koa, Pannek Kerstin, Ware Robert, Colditz Paul B.BMC Pediatrics10.1186/s12887-016-0678-7
Spinocerebellar Ataxia Type 3 in Italy Time to Change MindLeonardi Luca, Marcotulli Christian, storti eugenia, Tessa Alessandra, Serrao Mariano, Longobardi Antonino, Romano Silvia, Ristori Giovanni, Santorelli Filippo Maria, Pierelli Francesco, Casali CarloNEUROEPIDEMIOLOGY10.1159/000444642
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 familyLeonardi Luca, Ziccardi Lucia, Marcotulli Christian, Rubegni Anna, Longobardi Antonino, Serrao Mariano, storti eugenia, Pierelli Francesco, Tessa Alessandra, Parisi Vincenzo, Santorelli Filippo Maria, Carlo CasaliJOURNAL OF NEUROLOGY10.1007/s00415-016-8066-7
Early cross-modal plasticity in adultsLo Verde Luca, Morrone Maria Concetta, Lunghi ClaudiaJOURNAL OF COGNITIVE NEUROSCIENCE10.1162/jocn_a_01067
Binocular rivalry measured 2 hours after occlusion therapy predicts the recovery rate of the amblyopic eye in anisometropic childrenLunghi Claudia, Morrone Maria Concetta, Secci Jacopo, Caputo RobertoINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE10.1167/iovs.15-18419
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisMagri F., Nigro V., Angelini C., Mongini T., Mora M., Moroni I., Toscano A., D'angelo M.G., Tomelleri G., Siciliano Gabriele, Ricci G., Bruno Claudio, Corti S., Musumeci Olimpia1, Tasca G., Ricci E., Monforte Mauro, Sciacco M., FIORILLO CHIARA, Gandossini S., Minetti C., Morandi L., Savarese M., Di Fruscio Giuseppina, Semplicini Claudio, Pegoraro E., Govoni Alessandra, Brusa R., Del Bo R., Ronchi D., Moggio M., Bresolin N., Comi G.P.MUSCLE & NERVE10.1002/mus.25192
Implementation of the Hammersmith Infant Neurological Examination in a High-Risk Infant Follow-Up ProgramMaitre Nathalie L., Chorna Olena, Romeo Domenico M., Guzzetta AndreaPEDIATRIC NEUROLOGY10.1016/j.pediatrneurol.2016.09.010
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycanMarchese Maria, Pappalardo Andrea, Baldacci Jacopo, Verri Tiziano, Doccini Stefano, cassandrini denise alessandra, Bruno Claudio, FIORILLO CHIARA, Garcia-Gil Mercedes, Bertini Enrico, Pitto Letizia, Santorelli Filippo MariaBIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS10.1016/j.bbrc.2016.06.033
Hereditary spastic paraplegia Novel mutations and expansion of the phenotype variability in SPG56Masciullo M, Tessa A, Perazza S, Santorelli F M, Perna A, Silvestri G.EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY10.1016/j.ejpn.2016.02.001
Psychiatric evaluation of youths with Disruptive Behavior Disorders and psychopathic traits A critical review of assessment measuresMasi Gabriele, Milone Annarita, BROVEDANI PAOLA, Pisano Simone, Muratori PietroNEUROSCIENCE AND BIOBEHAVIORAL REVIEWS10.1016/j.neubiorev.2016.09.023
Combined pharmacotherapy-multimodal psychotherapy in children with Disruptive Behavior DisordersMasi Gabriele, Milone Annarita, Manfredi Azzurra, Brovedani Paola, Pisano Simone, Muratori PietroPSYCHIATRY RESEARCH10.1016/j.psychres.2016.02.010
Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy An observational studyMazzone E. S., Coratti Giorgia, Sormani M. P., Messina S., Pane M., D'Amico Adele, Colia Giulia, Fanelli Lavinia, Berardinelli Angela, Gardani Alice, Lanzillotta Valentina, D'Ambrosio Paola, Petillo Roberta, Cavallaro F., Frosini Silvia, Bello L., Bonfiglio Serena, De Sanctis Roberto, Rolle Enrica, Forcina Nicola, Magri Francesca, Vita Gian Luca, Palermo Concetta, Alice Donati M., Procopio Elena, Arnoldi Maria Teresa, Baranello Giovanni, Mongini T., Pini Antonella, Battini Roberta, Pegoraro E., Torrente Yvan, Previtali Stefano, Bruno Claudio, Politano L., Comi Giacomo Pietro, D'Angelo Maria Grazia, Bertini Enrico Silvio, Mercuri E.PLoS One10.1371/journal.pone.0151445
Altered exposure-related reshaping of body appreciation in adolescent patients with anorexia nervosaMele Sonia, Cazzato Valentina, Di Taranto Francesca, Maestro Sandra, Fabbro Franco, Muratori Filippo, Urgesi CosimoBody Image10.1016/j.bodyim.2016.08.014
Registries versus tertiary care centers How do we measure standards of care in Duchenne muscular dystrophy?Mercuri E., Baranello Giovanni, Battini Roberta, Berardinelli Angela Lucia, Bertini Enrico Silvio, Bruno Claudio, Comi Giacomo Pietro, D'Amico Adele, D'Angelo Maria Grazia, Gorni Ksenija, Messina S., Mongini T., Pane M., Pegoraro E., Pini Antonella, Politano L., Previtali Stefano, Ricci Federica, Sansone V., Vita Gian LucaNEUROMUSCULAR DISORDERS10.1016/j.nmd.2016.04.001
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophyMercuri E., Coratti Giorgia, Messina S., Ricotti V., Baranello Giovanni, D'Amico Adele, Pera Maria Carmela, Albamonte Emilio, Sivo Serena, Mazzone E. S., Arnoldi Maria Teresa, Fanelli Lavinia, De Sanctis Roberto, Romeo Domenico M M, Vita Gian Luca, Battini Roberta, Bertini Enrico Silvio, Muntoni Francesco, Pane M.PLoS One10.1371/journal.pone.0160195
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophyMercuri E., Signorovitch James Edward, Swallow Elyse, Song Jinlin, Ward Susan J., Pane M., Mazzone E. S., Messina S., Vita G., Sormani M. P., D'Amico Adele, Berardinelli Angela, Magri Francesca, Comi Giacomo Pietro, Baranello Giovanni, Mongini T., Pini Antonella, Battini Roberta, Pegoraro E., Bruno Claudio, Politano L., Previtali Stefano, Binks M. H., Campion G., Charnas L., Kaye E., Kelly M., Morris C., Reha AllenNEUROMUSCULAR DISORDERS10.1016/j.nmd.2016.05.016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti‿Boltshauser syndrome)Micalizzi Alessia, Poretti Andrea, Romani Marta, Ginevrino Monia, Mazza Tommaso, Aiello Chiara, Zanni Ginevra, Baumgartner Bastian, Borgatti Renato, Brockmann Knut, Camacho Ana, Cantalupo Gaetano, Haeusler Martin, Hikel Christiane, Klein Andrea, Mandrile Giorgia, Mercuri Eugenio, Rating D., Romaniello Romina, Santorelli Filippo Maria, Schimmel Mareike, Spaccini L., Teber S., Von Moers Arpad, Wente Sarah, Ziegler Andreas, Zonta Andrea, Bertini Enrico Silvio, Boltshauser Eugen, Valente Enza MariaEUROPEAN JOURNAL OF HUMAN GENETICS10.1038/ejhg.2016.19
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28Mignarri Andrea, Rubegni Anna, Tessa Alessandra, Stefanucci Stefano, Malandrini Alessandro, Cardaioli Elena, Meschini Maria Chiara, Stromillo Maria Laura, Doccini Stefano, Federico Antonio, Santorelli Filippo Maria, Dotti Maria TeresaJOURNAL OF THE NEUROLOGICAL SCIENCES10.1016/j.jns.2016.02.007
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplicationMilone Roberta, Valetto Angelo, Battini Roberta, Bertini Veronica, Valvo Giulia, Cioni Giovanni, Sicca FedericoEuropean Journal of Medical Genetics10.1016/j.ejmg.2016.03.003
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicismMirzaa Ghayda M., Campbell Catarina D., Solovieff Nadia, Goold Carleton P., Jansen Laura A., Menon Suchithra, Timms Andrew E., Conti Valerio, Biag Jonathan D., Olds Carissa, Boyle Evan August, Collins Sarah, Ishak Gisele, Poliachik Sandra L., Girisha Katta M., Yeung Kit San, Chung Brian Hon Yin, Rahikkala Elisa, Gunter Sonya A., McDaniel Sharon S., Macmurdo Colleen Forsyth, Bernstein Jonathan A., Martin Beth, Leary Rebecca J., Mahan Scott, Liu Shanming, Weaver Molly, Dorschner Michael O., Jhangiani Shalini, Muzny Donna M., Boerwinkle Eric, Gibbs Richard A., Lupski James R., Shendure Jay, Saneto Russell P., Novotny Edward J., Wilson Christopher J., Sellers William R., Morrissey Michael P., Hevner Robert F., Ojemann Jeffrey G., Guerrini Renzo, Murphy Leon O., Winckler Wendy, Dobyns William B.JAMA Neurology10.1001/jamaneurol.2016.0363
Single blind randomised controlled trial of GAME (Goals - Activity - Motor Enrichment) in infants at high risk of cerebral palsyMorgan Catherine, Novak Iona, Dale Russell C., Guzzetta Andrea, Badawi NadiaRESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.04.005
Reliability, validity and normative data of the Italian version of the Bus Story testMozzanica F., Salvadorini Renata, Sai E., Pozzoli R, Maruzzi P, Scarponi L, Barillari MR, Spada E, Ambrogi F, Schindler AINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGYdoi: 10.1016/j.ijporl.2016.07.029
The relationship between socioeconomic status and narrative abilities in a group of Italian normally developing childrenMozzanica Francesco, Ambrogi Federico, Salvadorini Renata, Sai Elena, Pozzoli Raffaella, Barillari Maria Rosaria, Scarponi Letizia, Schindler AntonioFOLIA PHONIATRICA ET LOGOPAEDICA10.1159/000452443
Implementing Coping Power Adapted as a Universal Prevention Program in Italian Primary Schools a Randomized Control TrialMuratori Pietro, Bertacchi Iacopo, Giuli Consuelo, Nocentini Annalaura, Lochman John E.PREVENTION SCIENCE10.1007/s11121-016-0715-7
Coping Power Adapted as Universal Prevention Program Mid Term Effects on Children‿s Behavioral Difficulties and Academic GradesMuratori Pietro, Bertacchi Iacopo, Giuli Consuelo, Nocentini Annalaura, Ruglioni Laura, Lochman John E.Journal of Primary Prevention10.1007/s10935-016-0435-6
Coping power for preschool-aged children A pilot randomized control trial studyMuratori Pietro, Giuli Consuelo, Bertacchi Iacopo, Orsolini Lara, Ruglioni Laura, Lochman John E.Early Intervention in Psychiatry10.1111/eip.12346
Which dimension of parenting predicts the change of callous unemotional traits in children with disruptive behavior disorder?Muratori Pietro, Lochman John E., Lai Elisa, Milone Annarita, Nocentini Annalaura, Pisano Simone, Righini Elisabetta, Masi GabrieleCOMPREHENSIVE PSYCHIATRY10.1016/j.comppsych.2016.06.002
Callous unemotional traits in children with disruptive behavior disorder Predictors of developmental trajectories and adolescent outcomesMuratori Pietro, Lochman John E., Manfredi Azzurra, Milone Annarita, Nocentini Annalaura, Pisano Simone, Masi GabrielePSYCHIATRY RESEARCH10.1016/j.psychres.2016.01.003
Is emotional dysregulation a risk indicator for auto-aggression behaviors in adolescents with oppositional defiant disorder?Muratori Pietro, Milone Annarita, Masi Gabriele, Pisano SimoneJOURNAL OF AFFECTIVE DISORDERS10.1016/j.jad.2016.08.052
Moral disengagement and callous-unemotional traits A longitudinal study of Italian adolescents with a disruptive behaviour disorderMuratori Pietro, Paciello Marinella, Buonanno Carlo, Milone Annarita, Ruglioni Laura, Lochman John E., Masi GabrieleCriminal Behaviour and Mental Health10.1002/cbm.2019
Intraneural stimulation elicits discrimination of textural features by artificial fingertip in intact and amputee humansOddo Calogero M., Raspopovic Stanisa, Artoni Fiorenzo, Mazzoni Alberto, Spigler Giacomo, Petrini Francesco Maria, Giambattistelli Federica, Vecchio Fabrizio, Miraglia Francesca, Zollo Loredana, Di Pino Giovanni, Camboni Domenico, Carrozza Maria Chiara, Guglielmelli Eugenio, Rossini Paolo Maria, Faraguna Ugo, Micera SilvestroeLife10.7554/eLife.09148
Patient-reported outcomes measure for children born preterm validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment toolOlivieri Ivana, M Bova Stefania, Fazzi Elisa, Ricci Daniela, Tinelli Francesca, Montomoli Cristina, Rezzani Cristiana, Balottin Umberto, Orcesi Simona, Ariaudo G., Capone L., Spairani S., Stronati M., Figar T., Mastrangelo M., Krachmalnicoff A., Lista G., Accorsi P., Martelli P., Rossi A., Micheletti S., Zaccagnino M., Chirico G., Mallardi M., Quintiliani M., Romeo D., Gallini F., Battini Roberta, Comparini Alessandro, The SOLE VLBWI Questionnaire Study Group GruppoDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY10.1111/dmcn.13122
Automated, quantitative measures of grey and white matter lesion burden correlates with motor and cognitive function in children with unilateral cerebral palsyPagnozzi Alex M., Dowson Nicholas, Doecke James, Fiori Simona, Bradley Andrew P., Boyd Roslyn N., Rose StephenNeuroImage-Clinical10.1016/j.nicl.2016.05.018
Alterations in regional shape on ipsilateral and contralateral cortex contrast in children with unilateral cerebral palsy and are predictive of multiple outcomesPagnozzi Alex M., Dowson Nicholas, Fiori Simona, Doecke James, Bradley Andrew P., Boyd Roslyn N., Rose StephenHUMAN BRAIN MAPPING10.1002/hbm.23262
Insomnia symptoms, perceived stress and coping strategies in patients with systemic lupus erythematosusPalagini L., Mauri M., Faraguna Ugo, Carli L., Tani C., Dell'Osso L., Mosca M., Riemann D.LUPUS10.1177/0961203316631630
Association between stress-related sleep reactivity and cognitive processes in insomnia disorder and insomnia subgroups Preliminary resultsPalagini Laura, Faraguna Ugo, Mauri Mauro, Gronchi Alessia, Morin Charles M., Riemann DieterSLEEP MEDICINE10.1016/j.sleep.2015.10.020
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 genePasanisi Maria Barbara, Missaglia Sara, Cassandrini Denise, Salerno Franco, Farina Stefania, Andreini Daniele, Agostoni Piergiuseppe, Morandi Lucia, Mora Marina, Tavian DanielaINTERNATIONAL JOURNAL OF CARDIOLOGY10.1016/j.ijcard.2016.01.137
The revolution in migraine genetics From aching channels disorders to a next-generation medicinePellacani Simona, Sicca Federico, Lorenzo Cherubino Di, Grieco Gaetano S., Valvo Giulia, Cereda Cristina, Rubegni Anna, Santorelli Filippo MariaFrontiers in Cellular Neuroscience10.3389/fncel.2016.00156
Development, and construct validity and internal consistency of the Grasp and Reach Assessment of Brisbane (GRAB) for infants with asymmetric brain injuryPerez Micah, Ziviani Jenny, Guzzetta Andrea, Ware Robert S., Tealdi Gessica, Burzi Valentina, Boyd Roslyn N.INFANT BEHAVIOR & DEVELOPMENT10.1016/j.infbeh.2016.10.004
Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma CellsPezzini Francesco, Bettinetti Laura, Di Leva Francesca, Bianchi Marzia, Zoratti Elisa, Carrozzo Rosalba, Santorelli Filippo Maria, Delledonne Massimo, Lalowski Maciej, Simonati AlessandroCELLULAR AND MOLECULAR NEUROBIOLOGY10.1007/s10571-016-0403-y
Cerium oxide nanoparticles The regenerative redox machine in bioenergetic imbalancePezzini Ilaria, Marino Attilio, Turco Serena Del, Nesti Claudia, Doccini Stefano, Cappello Valentina, Gemmi Mauro, Parlanti Paola, Santorelli Filippo Maria, Mattoli Virgilio, Ciofani GianniNanomedicine10.2217/nnm-2016-0342
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian PatientsPiga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania Paola, cassandrini denise alessandra, Mercuri E., Tasca Giorgio, Bertini Enrico Silvio, Fattori Fabiana, Toscano Antonio, Messina S., Moroni Isabella, Mora Marina, Moggio Maurizio Gualtiero, Colombo Irene, Giugliano Teresa, Pane M., Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo PietroJOURNAL OF MOLECULAR NEUROSCIENCE10.1007/s12031-016-0739-2
Update on the safety of second generation antipsychotics in youths A call for collaboration among paediatricians and child psychiatristsPisano Simone, Catone G., Veltri Stefania, Lanzara Valentina, Pozzi Marco, Clementi Emilio Giuseppe Ignazio, Iuliano Raffaella, Riccio Maria Pia, Radice Sonia, Molteni Massimo, Capuano Annalisa, Gritti Antonella, Coppola Giangennaro, Milone Annarita, Bravaccio Carmela, Masi GabrieleItalian Journal of Pediatrics10.1186/s13052-016-0259-2
A series of Greek children with pure hereditary spastic paraplegia clinical features and genetic findingsPolymeris Alexandros A., Tessa Alessandra, Anagnostopoulou Katherine, Rubegni Anna, Galatolo Daniele, Dinopoulos Argirios, Gika Artemis D., Youroukos Sotiris, Skouteli Eleni, Santorelli Filippo Maria, Pons RoserJOURNAL OF NEUROLOGY10.1007/s00415-016-8179-z
What do childhood attention deficit/hyperactivity symptoms in depressed adults tell us about the bipolar spectrum?Purper-Ouakil Diane, Porfirio Maria C., Le Strat Y., Falissard B., Gorwood P. A., Masi GabrielePSYCHIATRY RESEARCH10.1016/j.psychres.2016.12.055
Motor coordination impairment in children with autism spectrum disorder a pilot study using Movement Assessment Battery for Children-2 ChecklistPurpura Giulia, Fulceri Francesca, Puglisi Vittoria, Masoni Patrizia, Contaldo AnnaritaMINERVA PEDIATRICA27733748
One-class support vector machines identify the language and default mode regions as common patterns of structural alterations in young children with autism spectrum disordersRetico Alessandra, Gori Ilaria, Giuliano Alessia, Muratori Filippo, Calderoni SaraFrontiers in Neuroscience10.3389/fnins.2016.00306
CareToy Stimulation and Assessment of Preterm Infant‿s Activity Using a Novel Sensorized SystemRihar Andraſ, Sgandurra Giuseppina, Beani Elena, Cecchi Francesca, Pašič Jure, Cioni Giovanni, Dario Paolo, Mihelj Matjaſ, Munih MarkoANNALS OF BIOMEDICAL ENGINEERING10.1007/s10439-016-1669-4
Gut to brain interaction in Autism Spectrum Disorders A randomized controlled trial on the role of probiotics on clinical, biochemical and neurophysiological parametersSantocchi Elisa, Guiducci Letizia, Fulceri Francesca, Billeci Lucia, Buzzigoli Emma, Apicella Fabio, Calderoni Sara, Grossi Enzo, Morales Maria Aurora, Muratori FilippoBMC Psychiatry10.1186/s12888-016-0887-5
The genetic basis of undiagnosed muscular dystrophies and myopathiesSavarese Marco, Di Fruscio Giuseppina, Torella Annalaura, Fiorillo Chiara, Magri Francesca, Fanin Marina, Ruggiero Lucia, Ricci Giulia, Astrea Guja, Passamano Luigia, Ruggieri Alessandra, Ronchi Dario, Tasca Giorgio, D'Amico Adele, Janssens Sandra, Farina Olimpia, Mutarelli Margherita, Marwah Veer Singh, Garofalo Arcomaria, Giugliano Teresa, Sanpaolo Simone, Del Vecchio Blanco Francesca, Esposito Gaia, Piluso Giulio, D'Ambrosio Paola, Petillo Roberta, Musumeci Olimpia, Rodolico Carmelo, Messina Sonia, Evilÿ Anni, Hackman Peter, Filosto Massimiliano, Di Iorio Giuseppe, Siciliano Gabriele, Mora Marina, Maggi Lorenzo, Minetti Carlo, Sacconi Sabrina, Santoro Lucio, Claes Kathleen, Vercelli Liliana, Mongini Tiziana, Ricci Enzo, Gualandi Francesca, Tupler Rossella, De Bleecker Jan, Udd Bjarne, Toscano Antonio, Moggio Maurizio, Pegoraro Elena, Bertini Enrico, Mercuri Eugenio, Angelini Corrado, Santorelli Filippo Maria, Politano Luisa, Bruno Claudio, Comi Giacomo Pietro, Nigro VincenzoNEUROLOGY10.1212/WNL.0000000000002800
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriersSavarese Marco, Musumeci Olimpia, Giugliano Teresa, Rubegni Anna, Fiorillo Chiara, Fattori Fabiana, Torella Annalaura, Battini Roberta, Rodolico Carmelo, Pugliese Aniello, Piluso Giulio, Maggi Lorenzo, D'Amico Adele, Bruno Claudio, Bertini Enrico, Santorelli Filippo Maria, Mora Marina, Toscano Antonio, Minetti Carlo, Nigro VincenzoNEUROMUSCULAR DISORDERS10.1016/j.nmd.2016.02.004
Extent of altered white matter in unilateral and bilateral periventricular white matter lesions in children with unilateral cerebral palsyScheck Simon M., Fripp Jurgen, Reid Lee, Pannek Kerstin, Fiori Simona, Boyd Roslyn N., Rose Stephen E.RESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.04.007
A pilot study on early home-based intervention through an intelligent baby gym (CareToy) in preterm infantsSgandurra Giuseppina, Bartalena Laura, Cecchi Francesca, Cioni Giovanni, Giampietri Matteo, Greisen Gorm, Herskind Anna, Inguaggiato Emanuela, Lorentzen Jakob, Nielsen Jens Bo, Orlando Martina, Dario PaoloRESEARCH IN DEVELOPMENTAL DISABILITIES10.1016/j.ridd.2016.01.013
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsySicca Federico, Ambrosini Elena, Marchese Maria, Sforna Luigi, Servettini Ilenio, Valvo Giulia, Brignone Maria Stefania, Lanciotti Angela, Moro Francesca, Grottesi Alessandro, Catacuzzeno Luigi, Baldini Sara, Hasan Sonia, D'adamo Maria Cristina, Franciolini Fabio, Molinari Paola, Santorelli Filippo Maria, Pessia MauroScientific Reports10.1038/srep34325
Visual Plasticity Blindsight Bridges Anatomy and Function in the Visual SystemTamietto Marco, Morrone Maria ConcettaCURRENT BIOLOGY10.1016/j.cub.2015.11.026
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three familiesTessa A., Battini R., Rubegni A., Storti E., Marini C., Galatolo D., Pasquariello R., Santorelli F. M.EUROPEAN JOURNAL OF NEUROLOGY10.1111/ene.13085
SAR prediction in adults and children by combining measured B1+ maps and simulations at 7.0 TeslaTiberi Gianluigi, Costagli Mauro, Biagi Laura, Ciantis Alessio De, Fontana Nunzia, Stara Riccardo, Symms Mark Roger, Cosottini Mirco, Guerrini Renzo, Tosetti MichelaJOURNAL OF MAGNETIC RESONANCE IMAGING10.1002/jmri.25241
Perceived visual time depends on motor preparation and direction of hand movementsTomassini Alice, Morrone Maria ConcettaScientific Reports10.1038/srep27947
A novel application for cognitive evaluation in mountain ultramarathons Olfactory assessmentTonacci Alessandro, Billeci Lucia, Tartarisco Gennaro, Mastorci Francesca, Borghini Andrea, Mrakic-Sposta Simona, Moretti Sarah, Vezzoli Alessandra, Faraguna Ugo, Pioggia Giovanni, Guido Giardini, Pratali LorenzaWILDERNESS & ENVIRONMENTAL MEDICINE10.1016/j.wem.2015.11.013
Lack of replication of previous autism spectrum disorder GWAS hits in European populationsTorrico Bàrbara, Chiocchetti Andreas G., Bacchelli Elena, Trabetti Elisabetta, Hervás Amaia, Franke Barbara, Buitelaar Jan K., Rommelse Nanda, Yousaf Afsheen, Duketis Eftichia, Freitag Christine M., Caballero-Andaluz Rafaela, Martinez-Mir Amalia, Scholl Francisco G., Ribasés Marta, Battaglia Agatino, Malerba Giovanni, Delorme Richard, Benabou Marion, Maestrini Elena, Bourgeron Thomas, Cormand Bru, Toma ClaudioAutism Research10.1002/aur.1662
Randomized trial on the effects of a combined physical/cognitive training in aged MCI subjects the Train the Brain studyTrain the Brain Consortium Gruppo, Biagi Laura, Cioni Giovanni, Di Galante Marco, Faraguna Ugo, Pasquariello Rosa, Scelfo Danilo, Tosetti MichelaScientific Reports10.1038/srep39471
Respiratory pattern in a FSHD pediatric populationTrucco Federica, Pedemonte Marina, FIORILLO CHIARA, Tacchetti Paola, Brisca Giacomo, Bruno Claudio, Minetti CarloRESPIRATORY MEDICINE10.1016/j.rmed.2016.08.014
Adaptation to size affects saccades with long but not short latenciesZimmermann Eckart, Morrone Maria Concetta, Burr DavidJOURNAL OF VISION10.1167/16.7.2

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