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Brain, ISSN 0006-8950, 2009, Volume 132, Issue 9, pp. 2317 - 2326
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to... 
Epigenetics | Alcohol | Leber hereditary optic neuropathy | Tobacco | Mitochondrial DNA | alcohol | MITOCHONDRIAL-DNA MUTATIONS | DISCORDANT | mitochondrial DNA | CLINICAL EXPRESSION | SMOKING | LOCUS | NEUROSCIENCES | epigenetics | CLINICAL NEUROLOGY | PEDIGREES | DISEASE | tobacco | IDENTICAL-TWINS | EXPOSURE
Journal Article
ISSN 0304-3940, 2017
Mitochondrial dysfunction is associated with neuroinflammation and neurodegenerative disease, but its role as a driver in these processes is uncertain.... 
Harding’s disease | Mitochondria | Multiple sclerosis | Neurodegeneration | Neuroinflammation | Leber’s hereditary optic neuropathy | LHON-MS
Journal Article
ISSN 1465-7392, 2017
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not... 
Journal Article
ISSN 0006-8950, 2017
Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system... 
mitochondrial encephalomyopathy | mtDNA | biomarkers | disease progression | mitochondrial disease
Journal Article
ISSN 2041-1723, 2018
Somatic mutations during stem cell division are responsible for several cancers. In principle, a similar process could occur during the intense cell... 
Genetic Variation | Brain | Genetic Predisposition to Disease | Reproducibility of Results | Genetic Association Studies | Humans | Clone Cells | Mutation | Genotyping Techniques
Journal Article
ISSN 1553-7390, 2017
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree... 
Journal Article
ISSN 0006-8950, 2018
The m.1555A>G mitochondrial DNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome... 
Journal Article
ISSN 0022-3050, 2018
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact... 
Journal Article
ISSN 1098-3600, 2018
PURPOSE: To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease. METHODS:... 
Journal Article
ISSN 1088-9051, 2017
Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue... 
neurodegeneration | genomics | exome
Journal Article
ISSN 1471-0056, 2018
Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing.... 
Journal Article
ISSN 1573-2665, 2018
Mitochondrial disorders are one of the most challenging collections of human diseases impacting nearly 1:4000 live births (Vafai and Mootha 2013; Stewart and... 
Journal Article
ISSN 1662-4548, 2018
mtDNA is transmitted through the maternal line and its sequence variability, which is population specific, is assumed to be phenotypically neutral. However,... 
Journal Article
ISSN 1043-2760, 2018
Alterations in mitochondrial metabolism influence cell differentiation and growth. This process is regulated by the activity of 2-oxoglutarate-dependent... 
Homeostasis | Hypoxia | Mitochondria | Cell Differentiation | Animals | Humans
Journal Article
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