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Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.Muscle & Nerve|April 16, 2022
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophyJeffrey M Statland, Craig Campbell, Urvi Desai, et al.Neurology|February 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel, 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.The Lancet. Neurology|November 17, 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trialPerry B Shieh, Nancy L Kuntz, James J Dowling, et al.Journal of Neuromuscular Diseases|June 13, 2022
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular MyopathyJames J Dowling, Wolfgang Müller-Felber, Barbara K Smith, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesHane Lee, Alden Y Huang, Lee-Kai Wang, et al.Annals of Neurology|November 18, 2017
Natural history of infantile-onset spinal muscular atrophyStephen J Kolb, Christopher S Coffey, Jon W Yankey, et al.Annals of Clinical and Translational Neurology|February 23, 2016
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker studyStephen J Kolb, Christopher S Coffey, Jon W Yankey, 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.Pageof 14