TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
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A neurodegenerative perspective on mitochondrial optic neuropathiesRecessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesDominant optic atrophy.Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Medical management of hereditary optic neuropathies.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Novel transmembrane protein 126A (TMEM126A) couples with CD137L reverse signals in myeloid cells.The optic nerve: a "mito-window" on mitochondrial neurodegenerationDominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Localized translation near the mitochondrial outer membrane: An update.Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathyMutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyNR2F1 mutations cause optic atrophy with intellectual disability.Treatment of hereditary optic neuropathies.Genetic and phenotypic variability of optic neuropathies.A comprehensive strategy for exome-based preconception carrier screening.Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.Mitochondrial Dynamics in Mitochondrial Diseases.Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.Siblings with optic neuropathy and RTN4IP1 mutation.Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.Genotype–phenotype correlations in mitochondrial optic neuropathies
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P2860
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
description
2009 nî lūn-bûn
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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@ast
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en-gb
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@nl
type
label
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@ast
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en-gb
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@nl
prefLabel
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@ast
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en-gb
TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@nl
P2093
P2860
P50
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TMEM126A, encoding a mitochond ...... ive nonsyndromic optic atrophy
@en
P2093
Agnès Rotig
Françoise Meire
Jean-Louis Dufier
Lucas Fares-Taie
Marc Jean-Pierre
Nathalie Delphin
Noman Khadom
Nora Brahimi
Olivier Roche
Sahran Lachheb
P2860
P3181
P356
10.1016/J.AJHG.2009.03.003
P407
P50
P577
2009-04-01T00:00:00Z