| scholarly article | Q13442814 |
| P50 | author | Thomas Meitinger | Q28039310 |
| P2093 | author name string | Liechti-Gallati S | |
| Gerbitz KD | |||
| Jaksch M | |||
| Kleinle S | |||
| Müller-Höcker J | |||
| Hofmann S | |||
| Pongratz DE | |||
| Jedele KB | |||
| P2860 | cites work | Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. | Q50518927 |
| Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles | Q67678774 | ||
| Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency | Q68237964 | ||
| Cytochrome c oxidase deficiency | Q68488901 | ||
| Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans | Q72455815 | ||
| Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency | Q72863474 | ||
| Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes | Q73056557 | ||
| Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease | Q73709402 | ||
| No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency | Q73949987 | ||
| Classification of European mtDNAs from an analysis of three European populations | Q24533221 | ||
| Sequence and organization of the human mitochondrial genome | Q27860659 | ||
| A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria | Q28115983 | ||
| A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome | Q28297125 | ||
| Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database | Q28307342 | ||
| Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation | Q35644306 | ||
| Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). | Q35881649 | ||
| Structure and function of cytochrome c oxidase | Q37886474 | ||
| Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue | Q40125694 | ||
| Mitochondria: beyond oxidative phosphorylation | Q40437247 | ||
| Nucleo-Mitochondrial Interactions in Mitochondrial Gene Expression | Q40472192 | ||
| Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis | Q40959007 | ||
| Clinical presentations and laboratory investigations in respiratory chain deficiency | Q41088407 | ||
| Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing | Q41237196 | ||
| Human cytochrome c oxidase: structure, function, and deficiency. | Q41547376 | ||
| Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome | Q48054632 | ||
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 895-900 | |
| P577 | publication date | 1998-11-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy | |
| P478 | volume | 35 |
| Q48839472 | A SURF1 gene mutation presenting as isolated leukodystrophy |
| Q73089677 | Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency |
| Q28189586 | Cytochrome c oxidase deficiency |
| Q48151064 | Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene |
| Q22010737 | Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene |
| Q35436157 | Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies |
| Q34067750 | Human cytochrome oxidase deficiency |
| Q47198282 | Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity |
| Q39541857 | MITOP, the mitochondrial proteome database: 2000 update |
| Q33975212 | Maternally inherited hearing impairment |
| Q33793717 | Mitochondrial disorders. A diagnostic challenge in clinical chemistry |
| Q28204376 | Mutation screening in patients with isolated cytochrome c oxidase deficiency |
| Q24328756 | Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy |
| Q44915866 | Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II, and III genes detected in Alzheimer's disease using single-strand conformation polymorphism |
| Q34388122 | Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency |
| Q36719089 | Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase |
| Q53832967 | The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men. |
| Q34269333 | The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases |
| Q24337811 | hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly |
| Q91974232 | tRNA Metabolism and Neurodevelopmental Disorders |
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