Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan (Q73720585)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10785256%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

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

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6 November 2019

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H Sasaki

1

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6 November 2019

I Yabe

series ordinal

2

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6 November 2019

I Yamashita

series ordinal

3

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6 November 2019

K Tashiro

series ordinal

4

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6 November 2019

publication date

1 April 2000

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Journal of the Neurological Sciences

6 November 2019

published in

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6 November 2019

volume

175

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6 November 2019

issue

1

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6 November 2019

page(s)

45-51

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

6 November 2019

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

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

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

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

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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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7 January 2021

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

7 January 2021

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Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission

7 January 2021

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CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.

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

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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7 January 2021

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7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

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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7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-510X(00)00313-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10785256%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference