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Neuromuscular Disorders : NMD|March 28, 2016
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriersMarco Savarese, Olimpia Musumeci, Teresa Giugliano, et al.
Molecular Genetics and Metabolism|October 23, 2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideSylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, et al.
Cerebellum (London, England)|February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Epilepsia|March 6, 2026
Efficacy and safety of continuous midazolam infusion in the treatment of acute repetitive seizures in non-intensive settings: A multicenter retrospective real-world data studyAlessandro Orsini, Lorenza Marini, Luca Bergonzini, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
American Journal of Medical Genetics. Part A|April 30, 2026
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature ReviewGiulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
Annals of Clinical and Translational Neurology|March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 28, 2021
CASK related disorder: Epilepsy and developmental outcomeThea Giacomini, Sara Nuovo, Ginevra Zanni, et al.
Plos One|August 6, 2016
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular DystrophyEugenio Mercuri, Giorgia Coratti, Sonia Messina, et al.
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