(Q53292162)

13 May 2018

title

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

1 reference

13 May 2018

main subject

dementia

0 references

frontotemporal dementia

1 reference

6

Kym Boycott

1 reference

13 May 2018

13

Michael P Whyte

1 reference

13 May 2018

Steven Mumm

12

object named as

Steven Mumm

1 reference

13 May 2018

author name string

Virginia E Kimonis

1

1 reference

13 May 2018

Sarju G Mehta

2

1 reference

13 May 2018

Erin C Fulchiero

3

1 reference

13 May 2018

Dana Thomasova

4

1 reference

13 May 2018

Marzia Pasquali

5

1 reference

13 May 2018

Edward G Neilan

7

1 reference

13 May 2018

Alex Kartashov

8

1 reference

13 May 2018

Mark S Forman

9

1 reference

13 May 2018

Stuart Tucker

10

1 reference

13 May 2018

Katerina Kimonis

11

1 reference

13 May 2018

Charles D Smith

14

1 reference

13 May 2018

Giles D J Watts

15

1 reference

13 May 2018

language of work or name

English

0 references

publication date

1 March 2008

1 reference

13 May 2018

American Journal of Medical Genetics

published in

1 reference

13 May 2018

volume

146A

1 reference

13 May 2018

issue

6

1 reference

13 May 2018

page(s)

745-757

1 reference

13 May 2018

Mechanisms of disease: genetics of Paget's disease of bone and related disorders

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

SQSTM1 and Paget's disease of bone

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Hexamerization of p97-VCP is promoted by ATP binding to the D1 domain and required for ATPase and biological activities

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Inclusion-body myositis: newest concepts of pathogenesis and relation to aging and Alzheimer disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Sequence analysis of the AAA protein family

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Diagnostic procedures for Paget's disease. Radiologic, pathologic, and laboratory testing.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Valosin-containing protein gene mutations: clinical and neuropathologic features.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Treatment of Paget's disease--taming the wild osteoclast.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Mutant valosin-containing protein causes a novel type of frontotemporal dementia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain. Recent approaches to diagnosis and pathogenesis, and relation to aging.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

beta-Amyloid precursor epitopes in muscle fibers of inclusion body myositis

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467391

p97, a protein coping with multiple identities

30 November 2018

1 reference

12 December 2020

Chromosome 3-linked frontotemporal dementia

1 reference

12 December 2020

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

1 reference

12 December 2020

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.31862

1 reference

13 May 2018

PMCID

2467391

1 reference

13 May 2018

PubMed ID

18260132

1 reference

13 May 2018