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Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, 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.
Annals of Clinical and Translational Neurology|April 16, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium StudyStephanie M Hunn, Lindsay N Alfano, Aileen Jones, 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.
Annals of Clinical and Translational Neurology|December 15, 2024
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium studyLindsay N Alfano, Meredith K James, Kristine Grosfjeld Petersen, et al.
Neuromuscular Disorders : NMD|April 10, 2026
Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium studyStephanie M Hunn, Andrew R Findlay, Lindsay N Alfano, et al.
Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
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