A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene. (Q47692854)

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scientific article published in June 1998

Language	Label	Description	Also known as
English	A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.	scientific article published in June 1998

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scholarly article

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

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

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

spinocerebellar ataxia type 6

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based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

Takiyama Y

1

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Sakoe K

2

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

Namekawa M

3

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

Soutome M

4

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

Esumi E

5

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Ogawa T

6

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http://europepmc.org/abstract/MED/9702684

Ishikawa K

7

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Mizusawa H

8

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Nakano I

9

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Nishizawa M

10

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

publication date

1 June 1998

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4 February 2018

http://europepmc.org/abstract/MED/9702684

Journal of the Neurological Sciences

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http://europepmc.org/abstract/MED/9702684

158

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http://europepmc.org/abstract/MED/9702684

2

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http://europepmc.org/abstract/MED/9702684

141-147

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http://europepmc.org/abstract/MED/9702684

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

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

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

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

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

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

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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

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

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

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Homozygous inheritance of the Machado-Joseph disease gene

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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

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7 January 2021

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

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

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

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

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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

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

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7 January 2021

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

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7 January 2021

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

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Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

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7 January 2021

Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.

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7 January 2021

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

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

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7 January 2021

Homozygotes for Huntington's disease

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

1 reference

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7 January 2021

CAG Repeats in SCA6: Anticipating new clues

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Identifiers

10.1016/S0022-510X(98)00108-7

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/9702684

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