(Q64910955)

30 June 2019

title

Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. (English)

1 reference

30 June 2019

main subject

spinocerebellar ataxia

1 reference

Matsumura R

1

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30 June 2019

Futamura N

series ordinal

2

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30 June 2019

Ando N

series ordinal

3

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30 June 2019

Ueno S

series ordinal

4

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30 June 2019

publication date

1 January 2003

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30 June 2019

Acta Neurologica Scandinavica

published in

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30 June 2019

volume

107

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30 June 2019

issue

1

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30 June 2019

page(s)

38-41

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30 June 2019

Genetic testing in spinocerebellar ataxias: defining a clinical role

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Spinocerebellar ataxia type 6: founder effect in Western Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Clinical and molecular features of spinocerebellar ataxia type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Genetic background of apparently idiopathic sporadic cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

CAG repeat expansions in patients with sporadic cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.01347.X

7 January 2021

10.1034/J.1600-0404.2003.01347.X

Identifiers

DOI

1 reference

30 June 2019

1 reference

30 June 2019