(Q36080866)

12 August 2017

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

1 reference

amyotrophic lateral sclerosis

12 August 2017

0 references

author

Sonja Scholz

3

1 reference

12 August 2017

8

Michael Benatar

1 reference

12 August 2017

9

Gabriele Mora

1 reference

12 August 2017

11

Adriano Chiò

1 reference

12 August 2017

10

Gabriella Restagno

1 reference

12 August 2017

5

Maura Brunetti

1 reference

12 August 2017

12

Bryan J Traynor

1 reference

12 August 2017

7

Jessica Mandrioli

1 reference

12 August 2017

Yevgeniya Abramzon

1

1 reference

12 August 2017

Janel O Johnson

2

1 reference

12 August 2017

J P Taylor

4

1 reference

12 August 2017

Andrea Calvo

6

1 reference

12 August 2017

8 May 2012

1 reference

12 August 2017

Neurobiology of Aging

1 reference

12 August 2017

33

1 reference

12 August 2017

9

1 reference

12 August 2017

2231.e1-2231.e6

1 reference

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Exome sequencing reveals VCP mutations as a cause of familial ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

FUS mutations in sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

A human genome diversity cell line panel

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Epidemiology of ALS in Italy: a 10-year prospective population-based study.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

?True? sporadic ALS associated with a novel SOD-1 mutation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391327

Prevalence of SOD1 mutations in the Italian ALS population

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22572540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22572540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2012.04.005

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22572540

1 reference