(Q24611300)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Motor neuron involvement in multisystem proteinopathy: implications for ALS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

29 February 2020

main subject

1 reference

multisystem proteinopathy

inferred from title

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

J Paul Taylor

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Joanne Wuu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Catalina Fernandez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Conrad C Weihl

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Heather Katzen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Julie Steele

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Michael Benatar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

1 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

number of pages

7

1 reference

inferred from page(s)

published in

Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

1874-1880

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

29 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=3908355

Exome sequencing reveals VCP mutations as a cause of familial ALS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Prolonged survival in motor neuron disease: a descriptive study of the King's database 1990-2002

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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=3908355

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Phenotypic variability in three families with valosin-containing protein mutation.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Mutational analysis of the VCP gene in Parkinson's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

RNA-binding proteins with prion-like domains in ALS and FTLD-U.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

TDP-43 A315T mutation in familial motor neuron disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Pathological consequences of VCP mutations on human striated muscle.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Characterization of the Asian myopathy patients with VCP mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Valosin-containing protein mutation and Parkinson's disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908355

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23635965

12 December 2020

inferred from PubMed ID database lookup

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23635965

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23635965

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/WNL.0B013E3182929FC3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23635965%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference