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PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176516
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2015, Volume 6, p. 311
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved... 
Dominant mutation | AFG3L2 | Optic nerve | OPA1 | Retinal ganglion neurons | Life Sciences | retinal ganglion neurons | Optic Nerve
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 377 - 386
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 10/2017, Volume 101, pp. 25 - 29
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
Gene, ISSN 0378-1119, 12/2015, Volume 574, Issue 1, pp. 28 - 33
Autosomal recessive non-syndromic hearing loss (ARNSHL) is one of the most common genetic diseases in human and is subject to important genetic heterogeneity,... 
TMC1 | Mutation | Morocco | Whole exome sequencing | Hearing loss | FREQUENCIES | STABILITY | DOMINANT | DFNA36 | GJB2 | SERVER | SEQUENCE | GENETICS & HEREDITY | DEAFNESS | Deafness - genetics | Genes, Recessive - genetics | Membrane Proteins - genetics | Humans | Male | Mutation - genetics | Hearing Loss - genetics | Homozygote | Exome - genetics | Pedigree | Female | Connexins | Genetic research | Deafness | Genetic aspects | Genes | Life Sciences
Journal Article
Journal Article