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JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Epilepsia|October 29, 2025
Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International WorkshopAntonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, et al.
Journal of Neuromuscular Diseases|November 14, 2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European SurveyLynda El-Hassar, Ahmed Amara, Benoit Sanson, et al.
Human Genetics|May 14, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phaseEleonora Mauri, Elena Abati, Olimpia Musumeci, et al.
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