(Q37344346)

19 August 2017

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations (English)

1 reference

amyotrophic lateral sclerosis

19 August 2017

0 references

2

Anne-Dorte Sperfeld

1 reference

19 August 2017

6

John Q Trojanowski

1 reference

19 August 2017

9

Manuela Neumann

1 reference

19 August 2017

8

Albert C Ludolph

1 reference

19 August 2017

Peter Kühnlein

1

1 reference

19 August 2017

Ben Vanmassenhove

3

1 reference

19 August 2017

Vivianna Van Deerlin

4

1 reference

19 August 2017

Virginia M-Y Lee

5

1 reference

19 August 2017

Hans A Kretzschmar

7

1 reference

19 August 2017

1 September 2008

1 reference

19 August 2017

Archives of Neurology

1 reference

19 August 2017

65

1 reference

19 August 2017

1185-1189

1 reference

19 August 2017

9

1 reference

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

TDP-43 A315T mutation in familial motor neuron disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Genetics of familial amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Amyotrophic lateral sclerosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Focality of upper and lower motor neuron degeneration at the clinical onset of ALS.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

Mutant dynactin in motor neuron disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742976

10.1001/ARCHNEUR.65.9.1185

2 September 2018

Identifiers

DOI

1 reference

release_wsfxh5r2gbftxkbckomjdnzvb4

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wsfxh5r2gbftxkbckomjdnzvb4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 August 2017

1 reference