Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
about
Systems genetic analysis of hippocampal neuroanatomy and spatial learning in mice.The neuroimaging of Leigh syndrome: case series and review of the literature.DNA methylation status of nuclear-encoded mitochondrial genes underlies the tissue-dependent mitochondrial functionsThe p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesEnergetics, epigenetics, mitochondrial genetics.Mitochondrial energetics and therapeutics.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial complex I: structure, function and pathology.A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative diseaseThe pathophysiology of mitochondrial disease as modeled in the mouse.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromePathogenic mutations of nuclear genes associated with mitochondrial disorders.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.NDUFS4: creation of a mouse model mimicking a Complex I disorder.Antineoplastic effects of decitabine, an inhibitor of DNA promoter methylation, in adrenocortical carcinoma cellsIdentification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Autophagy is involved in the effects of resveratrol on prevention of splenocyte apoptosis caused by oxidative stress in restrained mice.NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeSequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.Candidate diagnostic markers and tumor suppressor genes for adrenocortical carcinoma by expression profile of genes on chromosome 11q13.Photoperiod Affects the Phenotype of Mitochondrial Complex I Mutants.Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.Mitochondrial DNA mutations in disease and aging.Heroin Abuse Results in Shifted RNA Expression to Neurodegenerative Diseases and Attenuation of TNFα Signaling Pathway.
P2860
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P2860
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@ast
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en-gb
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@nl
type
label
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@ast
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en-gb
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@nl
prefLabel
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@ast
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en-gb
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@nl
P2860
P921
P1433
P1476
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
@en
P2093
Douglas C Wallace
P2860
P304
P356
10.1212/01.WNL.0000125251.56131.65
P407
P577
2004-05-01T00:00:00Z