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International Journal of Environmental Research and Public Health|August 7, 2021
Parental Distress in the Time of COVID-19: A Cross-Sectional Study on Pediatric Patients with Neuropsychiatric Conditions during LockdownGianluca Sesso, Eleonora Bonaventura, Bianca Buchignani, et al.Neuromuscular Disorders : NMD|June 27, 2008
Daily salbutamol in young patients with SMA type IIMarika Pane, Susanna Staccioli, Sonia Messina, et al.Human Mutation|December 6, 2013
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentChiara Fiorillo, Francesca Moro, Julie Yi, et al.Human Mutation|August 25, 2009
RFT1 deficiency in three novel CDG patientsWendy Vleugels, Micha A Haeuptle, Bobby G Ng, et al.Orphanet Journal of Rare Diseases|February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.European Journal of Medical Genetics|January 12, 2026
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysisGiorgia Buoncuore, Marco Salvatore, Adele Rocchetti, et al.Journal of Inherited Metabolic Disease|September 11, 2019
Early neurodevelopmental characterization in children with cobalamin C/defectDaniela Ricci, Diego Martinelli, Gloria Ferrantini, et al.Brain Sciences|February 25, 2023
Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic ImplicationsAntonio Narzisi, Francisco Alcantud-Marin, Yurena Alonso-Esteban, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|January 14, 2026
Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorderElena Ferri, Alice Noris, Tayler Appleton, et al.Journal of Neurology|March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblastsSerena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.Pageof 23