(Q28119072)

4 January 2017

title

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation (English)

1 reference

Valosin containing protein

4 January 2017

main subject

1 reference

GOA release 2020-03-11

ATPase activity

1 reference

GOA release 2020-03-11

9

Stephan Zuchner

1 reference

4 January 2017

5

Conrad C. Weihl

1 reference

4 January 2017

Nivedita U. Jerath

1

1 reference

4 January 2017

Cameron D. Crockett

2

1 reference

4 January 2017

Steven A. Moore

3

1 reference

4 January 2017

Michael E. Shy

4

1 reference

4 January 2017

Tsui-Fen Chou

6

1 reference

4 January 2017

Tiffany Grider

7

1 reference

4 January 2017

Michael A. Gonzalez

8

1 reference

4 January 2017

Andrea Swenson

10

1 reference

4 January 2017

publication date

1 January 2015

1 reference

4 January 2017

published in

Case reports in genetics

1 reference

4 January 2017

volume

2015

1 reference

4 January 2017

page(s)

239167

1 reference

Creative Commons Attribution 3.0 Unported

4 January 2017

copyright license

start time

1 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

Motor neuron involvement in multisystem proteinopathy: implications for 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=4386706

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=4386706

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

Amyotrophic lateral sclerosis: an update on recent genetic insights

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and 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=4386706

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

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=4386706

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386706

A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2015%2F239167

21 January 2018

Identifiers

1 reference

4 January 2017

0 references

1 reference