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JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.Neurobiology of Aging|February 12, 2015
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositisQiang Gang, Conceicao Bettencourt, Pedro M Machado, et al.Frontiers in Cell and Developmental Biology|July 27, 2023
Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophyJerry R Mendell, Perry B Shieh, Craig M McDonald, et al.Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|February 24, 2021
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating StudyStacy A Rudnicki, Jinsy A Andrews, Tina Duong, et al.The Lancet. Neurology|March 20, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trialJohn W Day, Richard S Finkel, Claudia A Chiriboga, et al.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.Pageof 14