(Q41846344)

13 October 2017

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

1 reference

spinocerebellar ataxia type 10

13 October 2017

1 reference

9

Hélio A G Teive

1 reference

13 October 2017

Karen N McFarland

1

1 reference

13 October 2017

Jilin Liu

2

1 reference

13 October 2017

Ivette Landrian

3

1 reference

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

1 reference

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

1 reference

European Journal of Human Genetics

13 October 2017

1 reference

13 October 2017

21

1 reference

13 October 2017

11

1 reference

13 October 2017

1272-1276

1 reference

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