(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)

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

H Sasaki

1

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

I Yabe

series ordinal

2

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

I Yamashita

series ordinal

3

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

K Tashiro

series ordinal

4

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

publication date

1 April 2000

1 reference

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

Journal of the Neurological Sciences

6 November 2019

published in

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

volume

175

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

issue

1

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

page(s)

45-51

1 reference

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

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

6 November 2019

cites work

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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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

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

Consensus statement on the diagnosis of multiple system atrophy.

7 January 2021

1 reference

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

Clinical and molecular features of spinocerebellar ataxia type 6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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%2900313-0

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900313-0

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