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Neuromuscular Disorders : NMD|March 20, 2026
Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroupGiulia Tammam, Sandra Dhifallah, Hongmei Yang, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
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.
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