Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? (Q24300066)

6 July 2017

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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? (English)

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nervous system development

6 July 2017

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GOA release 2020-03-11

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spinocerebellar ataxia type 10

GOA release 2020-03-11

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Tohru Matsuura

1

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6 July 2017

Ping Fang

2

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6 July 2017

Christopher E Pearson

3

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6 July 2017

Parul Jayakar

4

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6 July 2017

Tetsuo Ashizawa

5

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6 July 2017

Benjamin B Roa

6

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6 July 2017

David L Nelson

7

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6 July 2017

language of work or name

English

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publication date

15 November 2005

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

78

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6 July 2017

issue

1

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6 July 2017

page(s)

125-129

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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10

6 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=1380209

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Dominantly inherited, non-coding microsatellite expansion disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Glutamine repeats and neurodegeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380209

Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10

29 November 2018

1 reference

12 December 2020

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

1 reference

12 December 2020

Imperfect CAG repeats form diverse structures in SCA1 transcripts

1 reference

12 December 2020

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

1 reference

12 December 2020

Identifiers

DOI

10.1086/498654

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6 July 2017

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6 July 2017

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