(Q35119694)

6 August 2017

title

Ataxin-2 repeat-length variation and neurodegeneration (English)

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6 August 2017

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32

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Mariely DeJesus-Hernandez

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6

Mariely DeJesus-Hernandez

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Elizabeth Finger

Elizabeth Finger

10

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Michael J Strong

Michael J Strong

26

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Charles L White

Charles L White

19

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Catherine Lomen-Hoerth

13

Catherine Lomen-Hoerth

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27

Ryan J Uitti

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31

Zbigniew K Wszolek

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33

Rosa Rademakers

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30

Ronald C Petersen

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6 August 2017

25

Bruce L Miller

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1

Owen A Ross

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11

William W Seeley

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18

David S Knopman

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24

Bradley F Boeve

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6 August 2017

21

James F Meschia

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6 August 2017

Neill R Graff-Radford

29

Neill R Graff-Radford

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6 August 2017

Minerva M Carrasquillo

5

Minerva M Carrasquillo

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6 August 2017

23

Kevin Boylan

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6 August 2017

3

Matt Baker

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16

Carol Lippa

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15

Eileen H Bigio

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6 August 2017

12

Kimmo J Hatanpaa

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6 August 2017

20

Jay A Van Gerpen

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Alexandra I Soto-Ortolaza

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4

Alexandra I Soto-Ortolaza

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6 August 2017

9

Kathryn Volkening

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6 August 2017

Nicola J Rutherford

2

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6 August 2017

Jennifer Adamson

7

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6 August 2017

Ma Li

8

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6 August 2017

Andrew Kertesz

14

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6 August 2017

Bryan K Woodruff

17

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6 August 2017

Ian R Mackenzie

22

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Steven G Younkin

28

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6 August 2017

publication date

24 May 2011

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6 August 2017

published in

Human Molecular Genetics

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6 August 2017

volume

20

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6 August 2017

issue

16

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6 August 2017

page(s)

3207-3212

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

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Spinocerebellar ataxia 2 (SCA2).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

PLINK: a tool set for whole-genome association and population-based linkage analyses

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Diagnostic criteria for Parkinson disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140823

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

27 September 2018

1 reference

12 December 2020

An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

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12 December 2020

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

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12 December 2020

CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDR227

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6 August 2017

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6 August 2017

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