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Annals of Clinical and Translational Neurology|October 7, 2025
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein InsightsNuria Muelas, Pablo Iruzubieta, Alberto Damborenea, et al.Journal of Neurology|March 14, 2022
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosisCristina Domínguez-González, Roberto Fernández-Torrón, Ursula Moore, et al.Annals of Clinical and Translational Neurology|August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History ComparisonsCraig M McDonald, Michela Guglieri, Dragana Vučinić, et al.Medicine|December 9, 2022
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairmentJordi Gascón-Bayarri, Petru Cristian Simon, Roser Llop, et al.Neurology. Genetics|March 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial DiseaseLaura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez, et al.Annals of Neurology|July 28, 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 DeletionJavier Poyatos-García, Pilar Martí, Alessandro Liquori, et al.Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.Journal of Neuromuscular Diseases|February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH studyNicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.Pageof 6