A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
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A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaThe epidemiology of Leber hereditary optic neuropathy in the North East of EnglandA new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IA mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit IGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaLeber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigreesSubclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical studyIdebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathyCrystal structure of the entire respiratory complex IMutants of Chlamydomonas reinhardtii deficient in mitochondrial complex I: characterization of two mutations affecting the nd1 coding sequenceStem cell-based models and therapies for neurodegenerative diseasesOPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.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.Mitochondrial DNA analysis in primary congenital glaucomaExtra-visual functional and structural connection abnormalities in Leber's hereditary optic neuropathy.Leber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathyLeber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection RevisitedMutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaLHON: Mitochondrial Mutations and More.Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.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.Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.Bioenergetic origins of complexity and disease.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.Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids.A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
P2860
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P2860
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին 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
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@ast
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@en
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@nl
type
label
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@ast
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@en
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@nl
prefLabel
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@ast
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@en
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@nl
P2093
P2860
P3181
P1476
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
@en
P2093
Huoponen K
Nikoskelainen EK
Savontaus ML
P2860
P304
P3181
P407
P577
1991-06-01T00:00:00Z