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Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2014, Volume 10, Issue 6
Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of... 
Gene mutations | Physiological aspects | Protein biosynthesis | Mitochondrial DNA | Research | Transfer RNA | Glutamine
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 471 - 481
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1501 - 1509
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2012, Volume 20, Issue 8, pp. 897 - 904
Although over 200 pathogenic mitochondrial DNA (mtDNA) mutations have been reported to date, determining the genetic aetiology of many cases of mitochondrial... 
Deafness | retinal degeneration | tRNA | Gel electrophoresis | Epilepsy | Muscles | Fatigue | Retina | Mitochondrial DNA | Pathogenicity | Mitochondria | Biopsy | Mutation | Electron transport | Myopathy
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 217 - 227
Journal Article
Brain, ISSN 0006-8950, 12/2015, Volume 138, Issue 12, pp. 3503 - 3519
Journal Article
Journal Article