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Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.Plos One|October 19, 2020
Medical management of muscle weakness in Duchenne muscular dystrophySarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, et al.Annals of Neurology|February 27, 2013
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophyKevin M Flanigan, Ermelinda Ceco, Kay-Marie Lamar, et al.Journal of Child Neurology|July 4, 2012
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participantsSean R Regner, Nicholas S Wilcox, Lisa S Friedman, et al.Pediatrics|February 18, 2015
Prevalence of Duchenne and Becker muscular dystrophies in the United StatesPaul A Romitti, Yong Zhu, Soman Puzhankara, et al.Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.Annals of Neurology|January 23, 2015
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45Andrew R Findlay, Nicolas Wein, Yuuki Kaminoh, et al.Annals of Clinical and Translational Neurology|September 5, 2015
Frataxin levels in peripheral tissue in Friedreich ataxiaMichael Lazaropoulos, Yina Dong, Elisia Clark, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.Pageof 39