Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy
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Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesionsMitochondrial geneticsFunctional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial ActivityND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.Medical management of hereditary optic neuropathies.Mitochondrial DNA: impacting central and peripheral nervous systems.The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specificNonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma.Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interestPoint mutations associated with Leber hereditary optic neuropathy in a Latvian populationNovel therapeutic approaches for Leber's hereditary optic neuropathy.Idebenone: A Review in Leber's Hereditary Optic Neuropathy.Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.mtDNA Population Variants and Neurodegenerative Diseases
P2860
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P2860
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@ast
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@en
type
label
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@ast
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@en
prefLabel
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@ast
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@en
P2093
P2860
P50
P1433
P1476
Rare primary mitochondrial DNA ...... 's hereditary optic neuropathy
@en
P2093
Anna Maria De Negri
Antonio Torroni
Baharak Hooshiar Kashani
Beate Leo-Kottler
Bernd Wissinger
Christophe Orssaud
Federico Sadun
Ghislaine Ducos
Helene Dollfus
Patrizia Amati-Bonneau
P2860
P304
P356
10.1371/JOURNAL.PONE.0042242
P407
P50
P577
2012-08-03T00:00:00Z