(Q48910063)

16 February 2018

title

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families. (English)

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16 February 2018

author name string

Shimazaki H

1

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16 February 2018

Takiyama Y

2

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16 February 2018

Sakoe K

3

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16 February 2018

Amaike M

4

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16 February 2018

Nagaki H

5

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16 February 2018

Namekawa M

6

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16 February 2018

Sasaki H

7

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16 February 2018

Nakano I

8

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16 February 2018

Nishizawa M

9

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16 February 2018

publication date

1 April 2001

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16 February 2018

Journal of the Neurological Sciences

number of pages

7

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based on heuristic

inferred from page(s)

published in

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16 February 2018

volume

185

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16 February 2018

issue

2

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16 February 2018

page(s)

101-107

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16 February 2018

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

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Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

7 January 2021

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

7 January 2021

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

7 January 2021

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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

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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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Clinical and molecular features of spinocerebellar ataxia type 6

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

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

7 January 2021

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

7 January 2021

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Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

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A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

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

7 January 2021

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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

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A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

7 January 2021

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Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese

7 January 2021

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

7 January 2021

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

7 January 2021

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De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

7 January 2021

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CAG repeat expansions in patients with sporadic cerebellar ataxia

7 January 2021

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A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

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

7 January 2021

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7 January 2021

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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

7 January 2021

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Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

7 January 2021

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Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

7 January 2021

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Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability

7 January 2021

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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

7 January 2021

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

7 January 2021

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10.1016/S0022-510X(01)00466-X

7 January 2021

Identifiers

DOI

1 reference

16 February 2018

1 reference

16 February 2018