Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 (Q24534014)

4 July 2017

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

1 reference

spinocerebellar ataxia type 10

4 July 2017

0 references

1 reference

Huda Y Zoghbi

11

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author name string

Tohru Matsuura

1

1 reference

4 July 2017

Ping Fang

2

1 reference

4 July 2017

Xi Lin

3

1 reference

4 July 2017

Mehrdad Khajavi

4

1 reference

4 July 2017

Kuniko Tsuji

5

1 reference

4 July 2017

Astrid Rasmussen

6

1 reference

4 July 2017

Raji P Grewal

7

1 reference

4 July 2017

Madhureeta Achari

8

1 reference

4 July 2017

Maria E Alonso

9

1 reference

4 July 2017

Stefan M Pulst

10

1 reference

4 July 2017

David L Nelson

12

1 reference

4 July 2017

Benjamin B Roa

13

1 reference

4 July 2017

Tetsuo Ashizawa

14

1 reference

4 July 2017

language of work or name

English

0 references

publication date

4 May 2004

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

74

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4 July 2017

1216-1224

1 reference

4 July 2017

6

1 reference

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

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=1182085

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

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=1182085

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Genetic aspects of autosomal dominant late onset cerebellar 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=1182085

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's 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=1182085

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=1182085

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=1182085

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=1182085

Frequency and stability of the myotonic dystrophy type 1 premutation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Characterization of the full fragile X syndrome mutation in fetal gametes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182085

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

29 November 2018

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

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

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence

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

Complex gene conversion events in germline mutation at human minisatellites

1 reference

12 December 2020

Identifiers

DOI

10.1086/421526

1 reference

4 July 2017

1 reference

4 July 2017

1 reference