| P2093 | author name string | Shan Duan | |
| | Xi Li | |
| | Sheng Lin | |
| | Baojiang Wang | |
| | Xueying Gu | |
| | Linghua Zhang | |
| | Kaifeng Zheng | |
| | Keqin Yao | |
| | Shouqing Li | |
| | Yueyuan Qin | |
| P2860 | cites work | Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder | Q24538459 |
| | Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome | Q24546324 |
| | The epidemiology of Leber hereditary optic neuropathy in the North East of England | Q24611047 |
| | Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background | Q24678122 |
| | Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation | Q24679168 |
| | MITOMAP: a human mitochondrial genome database--2004 update | Q24795655 |
| | Leber's hereditary optic neuropathy is multiorgan not mono-organ | Q28067201 |
| | The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy | Q28141172 |
| | Mitochondrial dysfunction as a cause of optic neuropathies | Q28242704 |
| | Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy | Q31081831 |
| | Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? | Q33932634 |
| | Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients | Q34081807 |
| | Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies | Q34152110 |
| | Leber hereditary optic neuropathy: clinical and molecular genetic findings | Q34347157 |
| | Increased mitochondrial mass in mitochondrial myopathy mice | Q34381144 |
| | Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients | Q34416699 |
| | Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. | Q34514611 |
| | Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity | Q34768383 |
| | Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy | Q35076141 |
| | Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. | Q35238441 |
| | Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy | Q35309901 |
| | Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy. | Q51003645 |
| | Mitochondrial fusion provides an 'initial metabolic complementation' controlled by mtDNA. | Q51656021 |
| | Retinal ganglion cell protection by 17-beta-estradiol in a mouse model of inherited glaucoma. | Q51756481 |
| | High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON) | Q63437367 |
| | Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease | Q73709402 |
| | Do High mtDNA Copy Numbers Truly Prevent LHON Manifestations? | Q88806628 |
| | Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach | Q35988151 |
| | Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways | Q36485172 |
| | Inherited mitochondrial optic neuropathies | Q37098009 |
| | 17β-estradiol eye drops protect the retinal ganglion cell layer and preserve visual function in an in vivo model of glaucoma. | Q37134516 |
| | Gene-environment interactions in Leber hereditary optic neuropathy | Q37319548 |
| | Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial | Q38202231 |
| | Genetic Basis of Mitochondrial Optic Neuropathies. | Q38260950 |
| | Incomplete penetrance in mitochondrial optic neuropathies | Q38656260 |
| | Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy. | Q38832079 |
| | Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent Polymorphisms. | Q38854421 |
| | High-sensitivity detection of the A3243G mutation of mitochondrial DNA by a combination of allele-specific PCR and peptide nucleic acid-directed PCR clamping | Q40516146 |
| | Sequence variation in mitochondrial complex I genes: mutation or polymorphism? | Q43170644 |
| | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. | Q46515103 |
| | Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel | Q49614877 |
| | Increased mtDNA Copy Number Does Not Protect Against LHON. | Q49964700 |
| | Increasing mtDNA levels as therapy for mitochondrial optic neuropathies | Q50033139 |
| | The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient | Q50238673 |
| P275 | copyright license | Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International | Q24082749 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 4 | |
| P921 | main subject | heteroplasmy | Q2581905 |
| P304 | page(s) | 3 | |
| P577 | publication date | 2019-07-03 | |
| P1433 | published in | Translational vision science & technology | Q27724547 |
| P1476 | title | Leber's Hereditary Optic Neuropathy-Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family | |
| P478 | volume | 8 | |