Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
about
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderThe epidemiology of Leber hereditary optic neuropathy in the North East of EnglandThree-dimensional structures of membrane proteins from genomic sequencingGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaMitochondrial DNA mutations in human diseaseSubclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical studyBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesHow rapidly does the human mitochondrial genome evolve?Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease.Minisequencing mitochondrial DNA pathogenic mutations.Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>CEvaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in ChineseVery low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.Clinical mitochondrial genetics.Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.A mitochondrial DNA clone is associated with increased risk for Alzheimer diseaseLeber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Mitochondrial loss, dysfunction and altered dynamics in Huntington's diseaseComplex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damageA very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathyAn mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection RevisitedLHON: Mitochondrial Mutations and More.Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.A new mtDNA mutation showing accumulation with time and restriction to skeletal muscleHaplotype 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.Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and agingMitochondrial DNA sequence variation in human evolution and disease.Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencingMultiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathyDevelopment and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patientsColour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
P2860
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P2860
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@ast
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@en
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@nl
type
label
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@ast
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@en
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@nl
prefLabel
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@ast
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@en
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@nl
P2093
P2860
P3181
P1476
Leber hereditary optic neuropa ...... ND1 mutation in six pedigrees
@en
P2093
D A McCullough
D M Turnbull
L A Bindoff
P2860
P304
P3181
P407
P577
1991-11-01T00:00:00Z