| scholarly article | Q13442814 |
| P50 | author | Roelof-Jan Oostra | Q37378930 |
| Joanna Poulton | Q63363610 | ||
| P2093 | author name string | Harding AE | |
| Mackey DA | |||
| Nikoskelainen E | |||
| Rosenberg T | |||
| Bronte-Stewart J | |||
| Bolhuis PA | |||
| Norby S | |||
| Govan G | |||
| P2860 | cites work | Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy | Q24532788 |
| A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia | Q24561975 | ||
| Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy | Q24562797 | ||
| Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia | Q24676021 | ||
| A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy | Q24678885 | ||
| An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy | Q28156628 | ||
| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
| Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy | Q28300484 | ||
| Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees | Q33965082 | ||
| A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology | Q35196293 | ||
| 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging | Q35644545 | ||
| Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. | Q42558110 | ||
| Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene. | Q42963619 | ||
| Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. | Q53321449 | ||
| Sporadic Leber hereditary optic neuropathy in Australia and New Zealand | Q57252198 | ||
| Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations | Q70998621 | ||
| Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation | Q72165050 | ||
| The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation | Q72205769 | ||
| High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy | Q72231129 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 481-485 | |
| P577 | publication date | 1996-08-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy | |
| P478 | volume | 59 |
| Q35188343 | A review of primary hereditary optic neuropathies |
| Q64957959 | A study protocol for evaluating the efficacy and safety of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomized prospective exploratory study. |
| Q42974496 | Associating mitochondrial DNA variation with complex traits |
| Q43819177 | Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees |
| Q86568919 | Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation |
| Q46515103 | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. |
| Q24517959 | Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy |
| Q36511591 | Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy |
| Q36054550 | Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family |
| Q33726402 | Decylubiquinone increases mitochondrial function in synaptosomes |
| Q64110035 | Diffusivity and quantitative T1 profile of human visual white matter tracts after retinal ganglion cell damage |
| Q43104709 | Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations |
| Q36595639 | Efficacy and Safety of rAAV2-ND4 Treatment for Leber's Hereditary Optic Neuropathy |
| Q92134059 | Electrophysiological and Structural Changes in Chinese Patients with LHON |
| Q37328975 | Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial |
| Q34007681 | Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation |
| Q47136745 | Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population |
| Q37319548 | Gene-environment interactions in Leber hereditary optic neuropathy |
| Q38541873 | Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications |
| Q34111207 | Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand |
| Q92990052 | Glutamate Stimulation Dysregulates AMPA Receptors-Induced Signal Transduction Pathway in Leber's Inherited Optic Neuropathy Patient-Specific hiPSC-Derived Retinal Ganglion Cells |
| Q35238441 | 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. |
| Q38854421 | Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent Polymorphisms. |
| Q24538459 | Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder |
| Q38753423 | Identification of small molecules that improve ATP synthesis defects conferred by Leber's hereditary optic neuropathy mutations |
| Q35589988 | Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation |
| Q37098009 | Inherited mitochondrial optic neuropathies |
| Q41821755 | Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy |
| Q49718775 | Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. |
| Q34118893 | Leber hereditary optic neuropathy |
| Q41547379 | Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? |
| Q34495453 | Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside |
| Q34893463 | Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited |
| Q34735172 | Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families |
| Q34000675 | Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation |
| Q37445425 | Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation |
| Q36089268 | Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families |
| Q34416699 | Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients |
| Q54333310 | Leber's hereditary optic neuropathy with the 3434, 9011 mitochondrial DNA point mutation. |
| Q56959652 | Lebersche Optikusneuropathie |
| Q37221554 | Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy |
| Q33679205 | Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation |
| Q35819272 | Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy |
| Q24671804 | Mitochondria |
| Q92619453 | Mitochondrial DNA Variants in Patients with Liver Injury Due to Anti-Tuberculosis Drugs |
| Q91810484 | Mitochondrial DNA Variation of Leber's Hereditary Optic Neuropathy in Western Siberia |
| Q33698535 | Mitochondrial DNA analysis: polymorphisms and pathogenicity |
| Q34647096 | Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination |
| Q56899885 | Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy |
| Q51811194 | Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma. |
| Q36082495 | Mitochondrial dynamics in cancer and neurodegenerative and neuroinflammatory diseases |
| Q45874419 | Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy. |
| Q53072695 | Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. |
| Q37134197 | Mitochondrial mutations: newly discovered players in neuronal degeneration. |
| Q34152110 | Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies |
| Q33657527 | Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy |
| Q92654743 | Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family |
| Q44338449 | Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy |
| Q36119384 | Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy |
| Q49614877 | Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel |
| Q33659290 | ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait |
| Q41479098 | Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan. |
| Q37716117 | Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy |
| Q44488488 | Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome |
| Q57101755 | Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: comparison with normal tension glaucoma |
| Q41106441 | Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON) |
| Q50000914 | Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy |
| Q34718175 | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy |
| Q33904852 | Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy |
| Q37062484 | Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells |
| Q24611047 | The epidemiology of Leber hereditary optic neuropathy in the North East of England |
| Q37786972 | The importance of mitochondria in age-related and inherited eye disorders. |
| Q89064224 | The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis |
| Q33957065 | The neurodegenerative mitochondriopathies |
| Q42379460 | The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy |
| Q44086295 | The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees |
| Q79314462 | Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy |
| Q34005399 | Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation |
| Q33729752 | Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation |
| Q42672269 | Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation |
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