Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients (Q34766957)

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21 January 2020

title

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients (English)

1 reference

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amyotrophic lateral sclerosis

21 January 2020

main subject

1 reference

2

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21 January 2020

Caroline Ingre

3

1 reference

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21 January 2020

Mamede de Carvalho

7

1 reference

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21 January 2020

Ole-Bjørn Tysnes

9

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21 January 2020

14

Aaron D Gitler

1 reference

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21 January 2020

12

Nancy M Bonini

1 reference

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21 January 2020

author name string

Teresa Lee

1

1 reference

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21 January 2020

Markus Weber

4

1 reference

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21 January 2020

Torsten Grehl

5

1 reference

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21 January 2020

Ole Gredal

6

1 reference

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21 January 2020

Thomas Meyer

8

1 reference

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21 January 2020

Georg Auburger

10

1 reference

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21 January 2020

Suzana Gispert

11

1 reference

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21 January 2020

Peter M Andersen

13

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21 January 2020

publication date

3 February 2011

1 reference

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21 January 2020

published in

Human Molecular Genetics

1 reference

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21 January 2020

volume

20

1 reference

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21 January 2020

page(s)

1697-1700

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21 January 2020

issue

9

1 reference

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Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Mutations of optineurin in amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Spinocerebellar ataxia 2 (SCA2).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Trinucleotide Repeat Disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Progressive disruption of cellular protein folding in models of polyglutamine diseases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

A novel protein with RNA-binding motifs interacts with ataxin-2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071667

SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management

7 July 2018

1 reference

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Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR045

A genome-wide association study of sporadic ALS in a homogenous Irish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR045

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

21 January 2018

1 reference

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An expansion in ALS genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR045

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21292779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21292779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR045

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21292779%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21292779%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference