A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease (Q28115494)

3 January 2017

title

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease (English)

1 reference

Valosin containing protein

3 January 2017

main subject

1 reference

GOA release 2020-03-11

ATPase activity

1 reference

GOA release 2020-03-11

Youjin Lee

7

0 references

Stephan Züchner

11

object named as

Stephan Zuchner

1 reference

3 January 2017

5

Matt Danzi

1 reference

3 January 2017

10

Conrad C. Weihl

1 reference

3 January 2017

Michael A. Gonzalez

1

1 reference

3 January 2017

Shawna M. Feely

2

1 reference

3 January 2017

Fiorella Speziani

3

1 reference

3 January 2017

Alleene V. Strickland

4

1 reference

3 January 2017

Chelsea Bacon

6

1 reference

3 January 2017

Tsui-Fen Chou

8

1 reference

3 January 2017

Susan H. Blanton

9

1 reference

3 January 2017

Michael E. Shy

12

1 reference

3 January 2017

language of work or name

English

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publication date

1 November 2014

1 reference

3 January 2017

1 reference

3 January 2017

volume

137

1 reference

3 January 2017

issue

Pt 11

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3 January 2017

page(s)

2897–2902

1 reference

BioGRID: a general repository for interaction datasets

3 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Exome sequencing reveals VCP mutations as a cause of familial ALS

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Amyotrophic lateral sclerosis: Problems and prospects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208462

Hereditary spastic paraplegia caused by a mutation in the VCP gene

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU224

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU224

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU224

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25125609

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

0 references

0 references

1 reference