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Annals of Clinical and Translational Neurology|April 29, 2020
Genetic modifiers of respiratory function in Duchenne muscular dystrophyLuca Bello, Grazia D'Angelo, Matteo Villa, et al.
Annals of Internal Medicine|September 3, 2019
Cardiac and Neuromuscular Features of Patients With LMNA-Related CardiomyopathyGiovanni Peretto, Chiara Di Resta, Jacopo Perversi, et al.
Plos One|October 2, 2014
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changesMarika Pane, Elena Stacy Mazzone, Serena Sivo, et al.
Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
Biological Psychiatry|March 12, 2013
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentationDaniela Galimberti, Chiara Fenoglio, Maria Serpente, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 16, 2023
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop reportFabrizio Racca, Valeria A Sansone, Federica Ricci, et al.
Plos One|January 15, 2014
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changesMarika Pane, Elena S Mazzone, Maria Pia Sormani, et al.
Neurology|August 5, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian NetworkSara Bortolani, Marco Savarese, Gaetano Vattemi, et al.
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