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Brain, ISSN 0006-8950, 01/2011, Volume 134, Issue 1, pp. 220 - 234
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2014, Volume 132, Issue 4, pp. 409 - 420
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 584 - 596
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression... 
OXIDATIVE STRESS | COMPLEX-I | CAUSES MYOPATHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | HIGH PENETRANCE | GENETICS & HEREDITY | HAN CHINESE FAMILIES | LACTIC-ACIDOSIS | ND4 G11778A MUTATION | SIDEROBLASTIC ANEMIA | CELL-LINES | MTDNA MUTATIONS | Mitochondria - enzymology | Neurons - pathology | Humans | Molecular Sequence Data | NADH Dehydrogenase - genetics | Optic Atrophy, Hereditary, Leber - genetics | Mitochondrial Proteins - genetics | Electron Transport Complex I - metabolism | Case-Control Studies | Electron Transport Complex IV - metabolism | Exome | Optic Atrophy, Hereditary, Leber - pathology | DNA, Mitochondrial - genetics | Mitochondria - genetics | Optic Atrophy, Hereditary, Leber - enzymology | Cyclooxygenase 2 - genetics | Electron Transport Complex I - genetics | Mitochondrial Proteins - metabolism | Base Sequence | Tyrosine-tRNA Ligase - metabolism | Cell Line | Tyrosine-tRNA Ligase - chemistry | Genetic Predisposition to Disease | DNA, Mitochondrial - metabolism | Gene Expression Regulation | Models, Molecular | Tyrosine-tRNA Ligase - genetics | Electron Transport Complex IV - genetics | Mitochondria - pathology | NADH Dehydrogenase - metabolism | Homozygote | Phenotype | Pedigree | Neurons - enzymology | Alleles | Cyclooxygenase 2 - metabolism | Mitochondrial Proteins - chemistry | Heterozygote | Mutation | Index Medicus
Journal Article
Brain, ISSN 0006-8950, 11/2016, Volume 139, Issue 11, pp. 2864 - 2876
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2013, Volume 21, Issue 1, pp. 62 - 68
Journal Article
Brain, ISSN 0006-8950, 08/2010, Volume 133, Issue 8, pp. 2426 - 2438
Journal Article