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Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Neurology. Genetics|April 6, 2026
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9John Vissing, Tahseen Mozaffar, Nicholas E Johnson, et al.Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.The Lancet. Neurology|March 20, 2024
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialEugenio Mercuri, Juan J Vilchez, Odile Boespflug-Tanguy, et al.Journal of Neuropathology and Experimental Neurology|October 6, 2006
Limb-girdle muscular dystrophy in the United StatesSteven A Moore, Christopher J Shilling, Steven Westra, et al.Neuromuscular Disorders : NMD|July 16, 2010
Clinical and genetic characterization of manifesting carriers of DMD mutationsPayam Soltanzadeh, Michael J Friez, Diane Dunn, et al.Pageof 39