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Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2016
Defining SOD1 ALS natural history to guide therapeutic clinical trial designTaha Bali, Wade Self, Jingxia Liu, et al.Human Mutation|November 26, 2009
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohortKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, 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.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.Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.The New England Journal of Medicine|August 3, 2007
Whole-genome analysis of sporadic amyotrophic lateral sclerosisTravis Dunckley, Matthew J Huentelman, David W Craig, et al.Neuron|March 15, 2020
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different MechanismsHyung-Lok Chung, Michael F Wangler, Paul C Marcogliese, et al.BMJ Open|September 19, 2020
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North AmericaJoshua D Green, Richard J Barohn, Emanuela Bartoccion, et al.Nature Neuroscience|April 2, 2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisJanel O Johnson, Erik P Pioro, Ashley Boehringer, et al.Pageof 14