(Q24539225)

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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

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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 (English)

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19

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Geraldine Cancel-Tassin

object named as

G Cancel

2

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object named as

H Zoghbi

18

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Giovanni Stevanin

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G Stevanin

6

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8

object named as

A Dürr

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author name string

H Takano

1

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T Ikeuchi

3

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D Lorenzetti

4

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R Mawad

5

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O Didierjean

7

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M Oyake

9

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T Shimohata

10

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R Sasaki

11

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R Koide

12

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S Igarashi

13

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S Hayashi

14

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Y Takiyama

15

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M Nishizawa

16

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H Tanaka

17

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S Tsuji

20

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language of work or name

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publication date

October 1998

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American Journal of Human Genetics

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63

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4

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1060-6

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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar ataxia type 1 in Russia

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

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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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Dentatorubral-pallidoluysian atrophy and Haw River syndrome

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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'.

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular features of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1086%2F302067

7 January 2021

based on heuristic

inferred from DOI database lookup

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release_iqzillzchzcsnbli6675r3udte

1 reference

https://api.fatcat.wiki/v0/release/iqzillzchzcsnbli6675r3udte

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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1 reference

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1 reference

Consolidated OpenCitations Corpus – April 2017

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