Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls (Q77763594)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879686%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879686%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 6

8 December 2019

main subject

1 reference

M Shizuka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879686%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

M Watanabe

2

1 reference

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8 December 2019

Y Ikeda

3

1 reference

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8 December 2019

K Mizushima

4

1 reference

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8 December 2019

K Okamoto

5

1 reference

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8 December 2019

M Shoji

6

1 reference

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8 December 2019

publication date

1 November 1998

1 reference

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Journal of the Neurological Sciences

8 December 2019

number of pages

3

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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8 December 2019

volume

161

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8 December 2019

issue

1

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8 December 2019

page(s)

85-87

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Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

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%2898%2900270-6

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%2898%2900270-6

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900270-6

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%2898%2900270-6

10.1016/S0022-510X(98)00270-6

7 January 2021

Identifiers

DOI

1 reference

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8 December 2019

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