| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/JHG.2016.127 |
| P698 | PubMed publication ID | 27761019 |
| P50 | author | Jianxin Lyu | Q88590122 |
| P2093 | author name string | Bing Xu | |
| Chao Zhou | |||
| Xiyuan Li | |||
| Yanling Yang | |||
| Hezhi Fang | |||
| Miaomiao Du | |||
| P2860 | cites work | Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia | Q24676021 |
| Blue native PAGE | Q28296330 | ||
| The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme | Q28368398 | ||
| Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy | Q28646237 | ||
| Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing | Q34249675 | ||
| A giant molecular proton pump: structure and mechanism of respiratory complex I. | Q34477041 | ||
| An enhanced MITOMAP with a global mtDNA mutational phylogeny | Q35608504 | ||
| Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation | Q35650685 | ||
| Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers | Q35889161 | ||
| Leigh and Leigh-like syndrome in children and adults | Q37274737 | ||
| Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options | Q37950745 | ||
| Mutations causing mitochondrial disease: What is new and what challenges remain? | Q38592664 | ||
| Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. | Q39937507 | ||
| Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids | Q40424707 | ||
| Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy. | Q41086005 | ||
| Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy | Q41197263 | ||
| Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. | Q43623412 | ||
| Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders | Q46218071 | ||
| A novel mtDNA C11777A mutation in Leigh syndrome | Q46667511 | ||
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy | Q48153107 | ||
| Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. | Q52240438 | ||
| Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 | Q57588241 | ||
| Isolation of mitochondria for biogenetical studies: An update. | Q60173520 | ||
| Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes | Q61797337 | ||
| Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects | Q74377371 | ||
| Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? | Q78739803 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 291-297 | |
| P577 | publication date | 2016-10-20 | |
| P1433 | published in | Journal of Human Genetics | Q6295302 |
| P1476 | title | Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome | |
| P478 | volume | 62 |
Search more.