(Q37072776)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22900631%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Phenotypic variability in three families with valosin-containing protein mutation (English)

1 reference

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11 February 2020

author name string

S Spina

1

1 reference

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11 February 2020

A D Van Laar

2

1 reference

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11 February 2020

J R Murrell

3

1 reference

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11 February 2020

R L Hamilton

4

1 reference

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11 February 2020

J K Kofler

5

1 reference

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11 February 2020

F Epperson

6

1 reference

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11 February 2020

O L Lopez

8

1 reference

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11 February 2020

J Quinlan

9

1 reference

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11 February 2020

B Ghetti

11

1 reference

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11 February 2020

publication date

20 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22900631%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neurology

11 February 2020

published in

1 reference

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11 February 2020

volume

20

1 reference

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11 February 2020

issue

2

1 reference

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11 February 2020

page(s)

251-258

1 reference

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Mutational analysis of the VCP gene in Parkinson's disease

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

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=3734548

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Exome sequencing reveals VCP mutations as a cause of familial ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

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=3734548

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=3734548

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=3734548

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Staging of brain pathology related to sporadic Parkinson's 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=3734548

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and 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=3734548

El Escorial revisited: revised criteria for the diagnosis of 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=3734548

Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Diagnostic criteria for Parkinson 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=3734548

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's 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=3734548

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Characterization of the Asian myopathy patients with VCP mutations

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Valosin-containing protein mutation and Parkinson's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734548

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03831.X

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

21 January 2018

1 reference

12 December 2020

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

1 reference

12 December 2020

The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: A clinicopathological study

1 reference

12 December 2020

Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations

1 reference

12 December 2020

10.1111/J.1468-1331.2012.03831.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22900631%20AND%20SRC:MED&resulttype=core&format=json

release_kcj4mukcxndgvmj74tfa2ewgv4

11 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kcj4mukcxndgvmj74tfa2ewgv4

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22900631%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22900631

1 reference