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Nature Genetics|June 28, 2011
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutationsBrendan A I Payne, Ian J Wilson, Charlotte A Hateley, et al.
Nature Reviews. Disease Primers|October 25, 2016
Mitochondrial diseasesGráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, et al.
Journal of Neuromuscular Diseases|May 17, 2024
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseCatarina Olimpio, Ida Paramonov, Leslie Matalonga, et al.
Human Molecular Genetics|May 21, 2010
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA moleculesPatrick Yu-Wai-Man, Kamil S Sitarz, David C Samuels, et al.
Journal of Neurogenetics|November 5, 2013
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationAngela Pyle, Helen Griffin, Jennifer Duff, et al.
Annals of Neurology|May 21, 2014
Molecular pathogenesis of polymerase γ-related neurodegenerationCharalampos Tzoulis, Gia Tuong Tran, Jonathan Coxhead, et al.
Lancet (London, England)|December 20, 2005
Mitochondrial DNA and survival after sepsis: a prospective studySimon V Baudouin, David Saunders, Watcharee Tiangyou, et al.
Journal of Neuropathology and Experimental Neurology|August 22, 2008
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gammaGábor Zsurka, Miriam Baron, Joanna D Stewart, et al.
Archives of Neurology|April 11, 2007
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and ParkinsonismGavin Hudson, Andrew M Schaefer, Robert W Taylor, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Kate Craig, Yoshihisa Takiyama, Bing-Wen Soong, et al.
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