Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. - Wikidata - awgldk - TriplyDB

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

http://www.wikidata.org/entity/Q34449792

about

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.Beegle: from literature mining to disease-gene discovery.Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.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 China Mutation analysis of CHCHD10 in different neurodegenerative diseases Genetic risk factors in Finnish patients with Parkinson's disease.Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.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?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.Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

P2860

Q26801194-481AB507-6FC8-4DA6-9B17-82D782AC7415 Q30855394-AAC3F4AB-C96B-4CDA-AB0B-9F194B7B2D16 Q35964804-D53560B1-CA4D-40CC-9F3F-D69A921747AF Q36477826-3029329D-92B7-4AC9-BC33-223CE17DC5A3 Q38701291-0194E841-6744-4139-943C-3177EB27539B Q38955185-58698B95-8CAC-4034-AABE-31461E181C4F Q38962451-B2BE41F9-D644-4C73-8DC1-CF0349E10BE1 Q39041271-C3762F34-B106-42BB-9D7B-0DAE7ABABECA Q39875176-53EABD89-431D-4C35-872D-E6DCFFDE417D Q40679869-C0AF46BF-6B6D-4817-B012-E93F6E8EB22D Q42399349-16DAE4B8-DC31-464A-8874-5ED3270C9662 Q42760482-9767B412-A1A6-4FA2-8814-ED6A973EBA26 Q46312312-4FE6BD17-0F26-403B-97BA-DB7F7A5734EA Q47386842-F8B84482-982D-4EA1-A861-DDB6F4957794 Q47430825-843DF87A-C86D-4E3A-83F6-63E0C1BF2672 Q47713890-46C00A8D-DFB9-4AB1-B63B-A583D536066B Q47833173-7D7E4E01-959A-4D96-9B25-16C1036307BB Q48012719-B0F6179A-8E34-4839-82B8-817BE83490B8 Q48188320-30CA1687-6572-4814-B0D7-1479471FB538 Q48188331-52A9A0E0-05AB-46FC-999F-927C91B34A7D Q51415228-113D5F20-5ACC-43D3-91F3-3A2892594D53 Q52149409-DD35BC13-57DF-4C18-8CD0-DC634C3E47F5 Q52149411-48862B51-067A-4CC8-B133-5EEEFA7158EA Q55286697-373F0512-D269-4B05-A3B5-8E40C214FEC3 Q58199446-D5FDB11E-5B4D-4783-BC1B-536DF17118E2

P2860

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

http://www.wikidata.org/entity/Q34449792

description

2014 nî lūn-bûn

@nan

2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

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

name

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@ast

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@en

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@nl

type

label

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@ast

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@en

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@nl

prefLabel

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@ast

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@en

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@nl

P1433

Q34449792-12D0756A-9973-4D01-8A9F-623870521F32

P1476

Q34449792-3388EA0D-886D-46E4-BA8F-0C3DAB94B612

P2093

Q34449792-0816B774-075A-4EDD-BCE7-E6161D8B14B9

Q34449792-384404EF-D34D-44FF-AE54-08DEEB0C8969

Q34449792-5F3FC08F-5B14-42A4-A4B2-220364D6CB5B

Q34449792-6AF8010F-C4B2-47AF-833E-B647EB59905F

Q34449792-86A29A0E-6A5B-4E7E-A3D1-372E16489142

Q34449792-FCDE48DE-A85C-410F-BBC2-269A6DC40847

P2860

Q34449792-06835092-B38C-4237-9DB2-8FC3A35CAD51

Q34449792-111617C2-D097-4784-9E2F-BFCF2472818F

Q34449792-1435675D-B43E-44A5-AE0D-9465818607CA

Q34449792-1DBD5111-AD05-44D1-918D-1B158CC9B821

Q34449792-24AD6874-445D-49D1-A625-2F2FBD297BA6

Q34449792-263A263C-8B3B-44E8-8B1F-DA3D3C47C73A

Q34449792-26C4C574-0CEE-4D8D-8AE7-A7E912EF44B2

Q34449792-4542704C-7D84-4485-A04F-E6A06918F68F

Q34449792-4BF8FDEB-CFDF-42DC-B900-27700FCBE41F

Q34449792-50F7AD8C-4787-451A-86D3-295F67C9F9CB

P304

Q34449792-2BE42B8F-8C7F-42A0-B7B9-B69E5B311542

P31

Q34449792-66D94492-5C37-41D9-A673-7B6F391BBFF9

P356

Q34449792-F23B8854-9E66-4572-A3F6-61EBDFBAEF30

P433

Q34449792-60F91134-985A-46EB-8B0A-53697041970C

P478

Q34449792-6300D86E-AA73-4590-ACD6-92B66017085D

P577

Q34449792-F2E8202C-DEFE-49A0-9596-AB10125328E8

P698

Q34449792-5DB485D7-59B8-4F9C-8DD5-E8A0E857043B

P356

P1433

Annals of Neurology

P1476

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

@en

P2093

Anna Maija Saukkonen

http://www.w3.org/2001/XMLSchema#string

Bjarne Udd

http://www.w3.org/2001/XMLSchema#string

Heidi Bouquin

http://www.w3.org/2001/XMLSchema#string

Jari Toivanen

http://www.w3.org/2001/XMLSchema#string

Manu Jokela

http://www.w3.org/2001/XMLSchema#string

Sini Penttilä

http://www.w3.org/2001/XMLSchema#string

P2860

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

P304

163-172

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/ANA.24319

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

77

http://www.w3.org/2001/XMLSchema#string

P577

2014-12-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25428574

http://www.w3.org/2001/XMLSchema#string