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Annals of Medicine|October 30, 2001
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) geneC Vives-Bauza, J Gamez, M Roig, et al.Journal of Biochemical and Biophysical Methods|August 1, 1993
Ketoisocaproate contamination errors in protein synthesis determinations using L[1-14C]leucineJ López Hellin, S Schwartz, P J Garlick, et al.Mitochondrion|August 27, 2005
Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypothesesRamon Marti, Antonella Spinazzola, Ichizo Nishino, et al.Human Molecular Genetics|May 8, 2007
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley, Susan Adams, Abdelhamid Slama, et al.Rheumatology (Oxford, England)|July 2, 2025
Understanding the molecular basis of Sjögren's disease using omic technologiesAlejandro Gómez-Gómez, Aterido Aterido, Tianlu Li, et al.American Journal of Physiology. Regulatory, Integrative and Comparative Physiology|June 10, 2016
Differential glucose metabolism in mice and humans affected by McArdle diseaseThomas O Krag, Tomàs Pinós, Tue L Nielsen, et al.Neurology|November 26, 2003
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle diseaseI Fernandez-Cadenas, A L Andreu, J Gamez, et al.Neuromuscular Disorders : NMD|March 4, 1999
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's diseaseC Bruno, L Tamburino, N Kawashima, et al.Neuromuscular Disorders : NMD|September 22, 2014
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?Noemí de Luna, Astrid Brull, Alejandro Lucia, et al.Human Mutation|March 18, 2011
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathyJavier Torres-Torronteras, Agustí Rodriguez-Palmero, Tomàs Pinós, et al.Pageof 278