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Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo <i>SPTLC2</i> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.
Therapeutic Advances in Rare Disease|September 22, 2025
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO studyPerry B Shieh, Wendy Hughes, Marie Wood, et al.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Lancet (London, England)|July 22, 2017
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialCraig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, et al.
Contemporary Clinical Trials Communications|August 11, 2018
Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!Amy Bartlett, Stephen J Kolb, Allison Kingsley, et al.
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.
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