Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
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Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityIntegrated metabolomic and transcriptome analyses reveal finishing forage affects metabolic pathways related to beef quality and animal welfare.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis.Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.The MICOS complex of human mitochondria.Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.MNRR1, a Biorganellar Regulator of Mitochondria.CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from ChinaReply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.Mutation analysis of CHCHD10 in different neurodegenerative diseasesNovel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease.Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.Erratum to: Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.CHCHD10 is not a frequent causative gene in Chinese ALS patients
P2860
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P2860
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@ast
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@en
type
label
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@ast
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@en
prefLabel
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@ast
Mutation in the novel nuclear- ...... minant mitochondrial myopathy.
@en
P2093
P2860
P1433
P1476
Mutation in the novel nuclear- ...... ominant mitochondrial myopathy
@en
P2093
Albert J Tahmoush
Faisal Fecto
Irfan Lalani
Kaouther Ajroud
Nailah Siddique
Sarah E Calvo
Senda Ajroud-Driss
Teepu Siddique
Terry D Heiman-Patterson
Vamsi K Mootha
P2860
P2888
P356
10.1007/S10048-014-0421-1
P577
2014-09-06T00:00:00Z