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The Journal of Biological Chemistry|March 13, 2008
Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS proteinMarjatta Son, Scot C Leary, Nadine Romain, et al.Neurology|August 17, 2018
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiencyJohn Vissing, H Orhan Akman, Jan Aasly, et al.Archives of Neurology|June 10, 2009
Effect of changes in fat availability on exercise capacity in McArdle diseaseSusanne T Andersen, Tina D Jeppesen, Tanja Taivassalo, et al.The Journal of Biological Chemistry|October 5, 2012
Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathyDaniel R Crooks, Suh Young Jeong, Wing-Hang Tong, et al.Journal of the Neurological Sciences|February 18, 2011
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutationValentina Emmanuele, Evangelia Sotiriou, Maryam Shirazi, et al.The Journal of Biological Chemistry|August 28, 2003
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiencyHana Antonicka, Isla Ogilvie, Tanja Taivassalo, et al.The Journal of Biological Chemistry|February 27, 2007
Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxinYavuz Oktay, Elhadji Dioum, Satoshi Matsuzaki, et al.The Journal of Physiology|June 18, 2002
Role of 5'AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's diseaseJakob N Nielsen, Jørgen F P Wojtaszewski, Ronald G Haller, et al.Human Molecular Genetics|June 2, 2009
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscleIrina Kramerova, Elena Kudryashova, Benjamin Wu, et al.Human Molecular Genetics|December 24, 2016
Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell linesGregory P Holmes-Hampton, Daniel R Crooks, Ronald G Haller, et al.Pageof 7