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Radiology|June 22, 2021
Hyperpolarized 13C MR Spectroscopy Depicts in Vivo Effect of Exercise on Pyruvate Metabolism in Human Skeletal MuscleJae Mo Park, Crystal E Harrison, Junjie Ma, et al.
Neuromuscular Disorders : NMD|May 18, 2010
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 geneHasan O Akman, Guido Davidzon, Kurenai Tanji, et al.
Human Molecular Genetics|August 15, 2013
Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscleDaniel R Crooks, Thanemozhi G Natarajan, Suh Young Jeong, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?Helen Swalwell, Emma L Blakely, Ruth Sutton, et al.
Annals of Clinical and Translational Neurology|September 15, 2019
No effect of triheptanoin on exercise performance in McArdle diseaseKaren L Madsen, Pascal Laforêt, Astrid E Buch, et al.
Neuromuscular Disorders : NMD|August 20, 2020
Results of an open label feasibility study of sodium valproate in people with McArdle diseaseRenata S Scalco, Mads Stemmerik, Nicoline Løkken, et al.
Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, et al.
Neurology|January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trialKaren L Madsen, Astrid E Buch, Bruce H Cohen, et al.
The Journal of Clinical Investigation|January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severityRohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Orphanet Journal of Rare Diseases|October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
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