Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability (Q41846344)

13 October 2017

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability (English)

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spinocerebellar ataxia type 10

13 October 2017

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9

Hélio A G Teive

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13 October 2017

Karen N McFarland

1

1 reference

13 October 2017

Jilin Liu

2

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13 October 2017

Ivette Landrian

3

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13 October 2017

Rui Gao

4

1 reference

13 October 2017

Partha S Sarkar

5

1 reference

13 October 2017

Salmo Raskin

6

1 reference

13 October 2017

Mariana Moscovich

7

1 reference

13 October 2017

Emilia M Gatto

8

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13 October 2017

Adriana Ochoa

10

1 reference

13 October 2017

Astrid Rasmussen

11

1 reference

13 October 2017

Tetsuo Ashizawa

12

1 reference

13 October 2017

27 February 2013

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European Journal of Human Genetics

13 October 2017

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13 October 2017

21

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13 October 2017

11

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13 October 2017

1272-1276

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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

The DNA unwinding element: a novel, cis-acting component that facilitates opening of the Escherichia coli replication origin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

DM2 CCTG*CAGG repeats are crossover hotspots that are more prone to expansions than the DM1 CTG*CAG repeats in Escherichia coli.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798839

Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.32

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.32

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

21 January 2018

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

The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10

1 reference

12 December 2020

Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.32

1 reference

Dimensions Publication ID

13 October 2017

0 references

1 reference

13 October 2017

PubMed publication ID

23443018

1 reference