(Q43891218)

27 November 2017

title

High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan (English)

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spinocerebellar ataxia type 1

27 November 2017

main subject

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Onodera Y

1

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27 November 2017

Aoki M

2

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27 November 2017

Tsuda T

3

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27 November 2017

Kato H

4

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27 November 2017

Nagata T

5

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27 November 2017

Kameya T

6

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27 November 2017

Abe K

7

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27 November 2017

Itoyama Y

8

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27 November 2017

publication date

1 September 2000

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Journal of the Neurological Sciences

27 November 2017

number of pages

6

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based on heuristic

inferred from page(s)

published in

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27 November 2017

volume

178

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27 November 2017

issue

2

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27 November 2017

page(s)

153-158

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The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

27 November 2017

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

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

7 January 2021

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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7 January 2021

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

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Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

7 January 2021

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7 January 2021

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

7 January 2021

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

7 January 2021

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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

7 January 2021

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Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

7 January 2021

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

7 January 2021

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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

7 January 2021

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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

7 January 2021

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

7 January 2021

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

7 January 2021

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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

7 January 2021

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Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

7 January 2021

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Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan

7 January 2021

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Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics

7 January 2021

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A Japanese family with Machado-Joseph disease characterized by initial emaciation and myoclonus

7 January 2021

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Maternal anticipation of DRPLA

7 January 2021

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Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

7 January 2021

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The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

7 January 2021

1 reference

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Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6.

7 January 2021

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

7 January 2021

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

7 January 2021

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De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

7 January 2021

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Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

7 January 2021

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A unique origin and multistep process for the generation of expanded DRPLA triplet repeats

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900390-7

10.1016/S0022-510X(00)00390-7

7 January 2021

Identifiers

DOI

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27 November 2017

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