The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
about
Ischemic A/D transition of mitochondrial complex I and its role in ROS generationLong survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.De novo mtDNA point mutations are common and have a low recurrence risk.Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.Mitochondrial disease: genetics and management.Characterisation of the active/de-active transition of mitochondrial complex I.Molecular mechanism and physiological role of active-deactive transition of mitochondrial complex I.Modulation of the conformational state of mitochondrial complex I as a target for therapeutic intervention.Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family.Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.Mitochondrial DNA damage and reactive oxygen species in neurodegenerative disease.
P2860
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P2860
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին 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
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@ast
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@en
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@nl
type
label
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@ast
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@en
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@nl
prefLabel
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@ast
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@en
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
@nl
P2093
P2860
P1476
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
@en
P2093
Deirdre E Donnelly
Ellen Crushell
Langping He
Patrick J Morrison
Robert W Taylor
Victoria Nesbitt
P2860
P304
P356
10.1111/J.1469-8749.2012.04224.X
P577
2012-02-27T00:00:00Z