(Q33684144)

28 July 2017

title

Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures (English)

1 reference

spinocerebellar ataxia type 10

28 July 2017

main subject

1 reference

9

Hélio A G Teive

1 reference

28 July 2017

Karen N McFarland

1

1 reference

28 July 2017

Jilin Liu

2

1 reference

28 July 2017

Ivette Landrian

3

1 reference

28 July 2017

Desmond Zeng

4

1 reference

28 July 2017

Salmo Raskin

5

1 reference

28 July 2017

Mariana Moscovich

6

1 reference

28 July 2017

Emilia M Gatto

7

1 reference

28 July 2017

Adriana Ochoa

8

1 reference

28 July 2017

Astrid Rasmussen

10

1 reference

28 July 2017

Tetsuo Ashizawa

11

1 reference

28 July 2017

language of work or name

1 reference

7 December 2013

1 reference

28 July 2017

1 reference

28 July 2017

volume

15

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

59-64

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Recent progress in spinocerebellar ataxia type-10 (SCA10).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038098

Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0385-6

21 January 2018

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

ATXN-2 CAG repeat expansions are interrupted in ALS patients

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

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

10.1007/S10048-013-0385-6

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference