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Annals of Neurology|October 1, 1987
Cytochrome c oxidase deficiency in Leigh syndromeS DiMauro, S Servidei, M Zeviani, et al.Neurology|March 10, 2004
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiencyM Gironi, C Lamperti, R Nemni, et al.Neurology|April 13, 2005
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutationsS Winterthun, G Ferrari, L He, et al.The New England Journal of Medicine|May 18, 1989
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndromeC T Moraes, S DiMauro, M Zeviani, et al.Cell Death and Differentiation|July 25, 2015
Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenaseV Granatiero, V Giorgio, T Calì, et al.Neurology|February 5, 1999
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibersJ Arenas, Y Campos, B Bornstein, et al.European Journal of Human Genetics : EJHG|May 30, 2001
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunctionT P Hutchin, N C Navarro-Coy, G Van Camp, et al.Gene|January 1, 1987
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidaseM Zeviani, M Nakagawa, J Herbert, et al.Journal of Inherited Metabolic Disease|January 7, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromesA Spinazzola, F Invernizzi, F Carrara, et al.Neurology|April 23, 2003
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)A Agostino, L Valletta, P F Chinnery, et al.Pageof 18