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American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.The Lancet. Neurology|April 17, 2024
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trialRabi Tawil, Kathryn R Wagner, Johanna I Hamel, 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.Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Journal of Neurology|August 21, 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosisDiana Esteller, Marianela Schiava, José Verdú-Díaz, et al.Neurology. Genetics|July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem ProteinopathyMarianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.Pageof 6