(Q30579321)

17 September 2017

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. (English)

1 reference

amyotrophic lateral sclerosis

17 September 2017

0 references

0 references

spinocerebellar ataxia type 2

1 reference

7

1 reference

17 September 2017

Sheng-Han Kuo

10

0 references

Jill S Goldman

object named as

Jill Goldman

4

0 references

Hiroshi Mitsumoto

9

object named as

Hiroshi Mitsumoto

1 reference

17 September 2017

Sirinan Tazen

1

1 reference

17 September 2017

Karla Figueroa

2

1 reference

17 September 2017

Justin Y Kwan

3

1 reference

17 September 2017

Ann Hunt

5

1 reference

17 September 2017

Jacinda Sampson

6

1 reference

17 September 2017

Stefan M Pulst

8

1 reference

17 September 2017

language of work or name

English

0 references

publication date

1 October 2013

1 reference

17 September 2017

1 reference

17 September 2017

70

1 reference

17 September 2017

10

1 reference

17 September 2017

1302-1304

1 reference

ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications

17 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Ataxin-2 repeat-length variation and neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039635

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23959108

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23959108

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ATXN-2 CAG repeat expansions are interrupted in ALS patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23959108

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2013.443

1 reference

17 September 2017

1 reference

17 September 2017

1 reference