(Q74181224)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 6

9 November 2019

main subject

1 reference

1 reference

T Kato

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

F Tanaka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Yamamoto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

E Yosida

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Indo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Watanabe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Yoshiwara

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Doyu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G Sobue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 July 2000

1 reference

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9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1

1 reference

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9 November 2019

page(s)

69-73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

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

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Genes involved in hereditary ataxias

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

CAG Repeats in SCA6: Anticipating new clues

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Homozygotes for Huntington's disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Repeats may not be everything in anticipation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580112.X

7 January 2021

10.1034/J.1399-0004.2000.580112.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10945665%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference