The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
about
Succinate dehydrogenase upregulation destabilize complex I and limits the lifespan of gas-1 mutantPathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.A Select Subset of Electron Transport Chain Genes Associated with Optic Atrophy Link Mitochondria to Axon Regeneration in Caenorhabditis elegansDistal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationThe clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.Systems genetics of the lateral septal nucleus in mouse: heritability, genetic control, and covariation with behavioral and morphological traits.The genetics of Leigh syndrome and its implications for clinical practice and risk managementMaternally inherited mitochondrial DNA disease in consanguineous families.Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiencyDiabetes Susceptibility Genes Pdx1 and Clec16a Function in a Pathway Regulating Mitophagy in β-Cells.Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Relevance of mitochondrial genetics and metabolism in cancer development.Paths of Heritable Mitochondrial DNA Mutation and Heteroplasmy in Reference and gas-1 Strains of Caenorhabditis elegans.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.Leigh syndrome: neuropathology and pathogenesis.NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeComplex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.The effects of nuclear reprogramming on mitochondrial DNA replication.Polymorphisms of mitochondrial DNA control region are associated to endometriosis.Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo.A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.Prediction of co-expression genes and integrative analysis of gene microarray and proteomics profile of Keshan disease.Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation
P2860
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P2860
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@ast
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@en
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@nl
type
label
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@ast
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@en
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@nl
prefLabel
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@ast
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@en
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@nl
P2093
P2860
P356
P1433
P1476
The p.M292T NDUFS2 mutation ca ...... syndrome in multiple families
@en
P2093
Andrew A Morris
Anita M Devlin
Charlotte L Alston
David R Thorburn
Gabriele Saretzki
Helen A L Tuppen
Langping He
Lisa Worgan
Mazhor Al-Dosary
Michael Clarke
P2860
P304
P356
10.1093/BRAIN/AWQ232
P407
P577
2010-09-06T00:00:00Z