Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders (Q34170998)

31 July 2017

title

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders (English)

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31 July 2017

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20

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Giovanni Stevanin

Giovanni Stevanin

3

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Vincent Meininger

12

Vincent Meininger

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11

Didier Hannequin

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Emeline Mundwiller

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Edor Kabashi

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Isabelle Le Ber

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Philippe Couarch

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31 July 2017

6

Agnès Camuzat

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31 July 2017

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Danielle Seilhean

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31 July 2017

13

Florence Pasquier

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31 July 2017

15

Philippe Couratier

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31 July 2017

Sophie Rivaud-Pechoux

4

Sophie Rivaud-Péchoux

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1

Serena Lattante

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2

Stéphanie Millecamps

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31 July 2017

17

Anne-Marie Bonnet

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31 July 2017

18

Christine Tranchant

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31 July 2017

19

Eric LeGuern

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31 July 2017

Véronique Danel-Brunaud

16

Véronique Danel-Brunaud

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31 July 2017

10

François Salachas

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31 July 2017

Carine Moigneu

5

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31 July 2017

Sandra Da Barroca

7

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31 July 2017

French Research Network on FTD and FTD-ALS

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31 July 2017

language of work or name

English

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publication date

6 August 2014

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31 July 2017

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31 July 2017

volume

83

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31 July 2017

issue

11

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31 July 2017

page(s)

990-995

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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Ataxin-2 repeat-length variation and neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4162303

Progranulin null mutations in both sporadic and familial frontotemporal dementia

28 October 2018

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

12 December 2020

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

1 reference

12 December 2020

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

1 reference

12 December 2020

ATXN-2 CAG repeat expansions are interrupted in ALS patients

1 reference

12 December 2020

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

1 reference

12 December 2020

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

1 reference

12 December 2020

10.1212/WNL.0000000000000778

Identifiers

DOI

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31 July 2017

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31 July 2017

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