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Neuromuscular Disorders : NMD|July 29, 2026
Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approachFrancesca Cumbo, Michele Tosi, Michela Catteruccia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2024
Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative studyFrancesca Cumbo, Michele Tosi, Irene Mizzoni, et al.
Brain Sciences|February 26, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive AtaxiaJacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 9, 2022
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndromeFederica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, et al.
Molecular Genetics & Genomic Medicine|February 15, 2020
Defining language disorders in children and adolescents with Noonan SyndromeGiulia Lazzaro, Cristina Caciolo, Deny Menghini, et al.
Neuromuscular Disorders : NMD|August 11, 2022
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patientsFrancesca Cumbo, Michele Tosi, Michela Catteruccia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 9, 2023
Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregiversMichele Tosi, Francesca Cumbo, Michela Catteruccia, et al.
Orphanet Journal of Rare Diseases|October 12, 2021
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutationsArianna Maiorana, Stefania Caviglia, Benedetta Greco, et al.
Cerebellum (London, England)|September 23, 2024
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein ElevationJacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, et al.
Neuromuscular Disorders : NMD|February 10, 2024
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal studyFrancesca Cumbo, Michele Tosi, Michela Catteruccia, et al.
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