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American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.JAMA|April 5, 2022
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical TrialMichela Guglieri, Kate Bushby, Michael P McDermott, et al.Brain : a Journal of Neurology|February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.Pageof 15