CAG repeat expansions in patients with sporadic cerebellar ataxia (Q77060011)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9696528 AND SRC:MED&resulttype=core&format=json

2 December 2019

title

CAG repeat expansions in patients with sporadic cerebellar ataxia (English)

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2 December 2019

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N. Futamura

1

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3 January 2025

R. Matsumura

2

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3 January 2025

Y. Fujimoto

3

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3 January 2025

H. Horikawa

4

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3 January 2025

A. Suzumura

5

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3 January 2025

T. Takayanagi

6

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3 January 2025

language of work or name

English

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National Center for Biotechnology Information

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3 January 2025

publication date

1 July 1998

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2 December 2019

July 1998

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9696528

full work available at URL

3 January 2025

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111/j.1600-0404.1998.tb07378.x

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1998.tb07378.x/fullpdf

3 January 2025

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Acta Neurologica Scandinavica

3 January 2025

published in

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2 December 2019

volume

98

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2 December 2019

issue

1

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2 December 2019

page(s)

55-59

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

2 December 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

3 January 2025

3

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

4

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

3 January 2025

5

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

3 January 2025

6

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

7

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

8

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

3 January 2025

9

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

3 January 2025

10

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

11

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

12

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

13

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

14

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

15

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

3 January 2025

16

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

3 January 2025

17

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

18

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

19

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

3 January 2025

20

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan

3 January 2025

21

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

22

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

23

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

3 January 2025

24

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation

3 January 2025

25

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

26

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Autosomal dominant cerebellar ataxias in the Kinki area of Japan

3 January 2025

28

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families

3 January 2025

29

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

An apparently sporadic case with spinocerebellar ataxia type 1 (SCA1)

3 January 2025

30

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Molecular genetics of triplet repeats: unstable expansion of triplet repeats as a new mechanism for neurodegenerative diseases.

3 January 2025

31

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

3 January 2025

34

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease

3 January 2025

35

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

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

3 January 2025

36

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.1998.TB07378.X

3 January 2025

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9696528 AND SRC:MED&resulttype=core&format=json

2 December 2019

1 reference