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Neurology|August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyOzge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, et al.Journal of Neuromuscular Diseases|March 13, 2023
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)Richard S Finkel, Basil T Darras, Jerry R Mendell, et al.Journal of Neuromuscular Diseases|January 22, 2024
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE RegistryLaurent Servais, John W Day, Darryl C De Vivo, et al.Neuromuscular Disorders : NMD|February 20, 2025
Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophyLeo H Wang, Maya N Hatch, Michael P McDermott, et al.Human Gene Therapy|February 13, 2026
Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and ManagementPerry B Shieh, Crystal Proud, Tamir Diamond, et al.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.Pageof 14