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Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5096 - 5106
Increased mitochondrial mass, commonly termed mitochondrial proliferation, is frequently observed in many human diseases directly or indirectly involving... 
Animal models
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2013, Volume 50, Issue 10, pp. 704 - 714
Journal Article
Neurology, ISSN 0028-3878, 10/2013, Volume 81, Issue 17
Objective: To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease. Methods: We describe 2 patients from a... 
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2015, Volume 24, Issue 14, pp. 3948 - 3955
Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome... 
REGULATOR | INTERFERON | PROTEIN | GRIM-19 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CLINICAL-FEATURES | CELL-DEATH | Life Sciences
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 05/2018, Volume 71, Issue 5, pp. 754 - 757
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11... 
dialysis | heteroplasmy | NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome | focal segmental glomerulosclerosis (FSGS) | end-stage renal disease (ESRD) | proteinuria | mitochondrial cytopathy | renal biopsy | case report | reduced kidney function | INJURY | UROLOGY & NEPHROLOGY | MITOCHONDRIAL DYSFUNCTION | GENE | DISEASE | MUTATION | Life Sciences
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2366 - 2374
We report on clinical, genetic and metabolic investigations in a family with optic neuropathy, non‐progressive cardiomyopathy and cognitive disability.... 
mitochondrial tRNA | mtDNA | mitochondria | optic neuropathy | cognitive disability | cardiomyopathy | MTO1 | respiratory chain | Mitochondria | MtDNA | Respiratory chain | Optic neuropathy | Cardiomyopathy | Cognitive disability | Mitochondrial tRNA | HUMANS | DISORDERS | COUPLING DEFECT | HYPERTROPHIC CARDIOMYOPATHY | DATABASE | DNA | DISEASE | GENETICS & HEREDITY | LACTIC-ACIDOSIS | TRANSFER-RNA | Electron Transport Complex III - genetics | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Optic Nerve Diseases - pathology | Cardiomyopathies - genetics | Optic Nerve Diseases - complications | DNA Mutational Analysis | Electron Transport Complex I - genetics | Cardiomyopathies - diagnosis | Optic Disk - metabolism | Membrane Potential, Mitochondrial - genetics | Adult | Female | Gene Expression | Electron Transport Complex II - genetics | RNA, Transfer, Phe - genetics | Intellectual Disability - pathology | Cardiomyopathies - pathology | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Mitochondria - pathology | Visual Acuity | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Homozygote | Pedigree | Intellectual Disability - diagnosis | Cardiomyopathies - complications | Mutation | Optic Disk - pathology | Care and treatment | Analysis | Genetic research | Genetic aspects | Mitochondrial DNA | Cognition disorders | Heart diseases | Optic nerve | Cognitive ability | Visual evoked potentials | Neuropathy | Acuity | Electroretinograms | Atrophy | Optic atrophy | Biopsy | Electron transport | DNA sequencing | Life Sciences | Genetics
Journal Article
Biochemical Journal, ISSN 0264-6021, 01/2007, Volume 402, Issue 2, pp. 377 - 385
DGUOK [dG (deoxyguanosine) kinase] is one of the two mitochondrial deoxynucleoside salvage pathway enzymes involved in precursor synthesis for mtDNA... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 4, pp. 542 - 550
Journal Article