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Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.Neuromuscular Disorders : NMD|February 17, 2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.Molecular Genetics and Metabolism|July 31, 2016
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY StudyAns van der Ploeg, Pierre G Carlier, Robert-Yves Carlier, et al.Neurology|May 11, 2022
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth DiseaseFlorian P Thomas, Thomas H Brannagan, Russell J Butterfield, et al.Annals of Neurology|June 29, 2005
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophyDiana M Escolar, Gunnar Buyse, Erik Henricson, 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.Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.Neuromuscular Disorders : NMD|March 27, 2023
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI patternLaura Llansó, Ursula Moore, Carla Bolano-Diaz, et al.Annals of Neurology|March 13, 2008
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyKathryn R Wagner, James L Fleckenstein, Anthony A Amato, et al.Annals of Neurology|September 11, 2009
Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase IIIPetra Kaufmann, John L P Thompson, Gilberto Levy, et al.Pageof 14