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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

Human molecular genetics, 1997-10, Vol.6 (11), p.1973-1978

1997

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The AXH module: an independently folded domain common to ataxin-1 and HBP1

FEBS letters, 2003-09, Vol.551 (1), p.107-112

2003

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Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

Cytogenetic and Genome Research, 2003-01, Vol.100 (1-4), p.147-153

2003

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Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2

Journal of medical genetics, 2004-06, Vol.41 (6), p.e82-e82

2004

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CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 1999-06, Vol.354 (1386), p.1089-1094

1999

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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I

American journal of human genetics, 1994-06, Vol.54 (6), p.959-965

1994

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Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

American journal of human genetics, 2001-03, Vol.68 (3), p.759-764

2001

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Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

Journal of molecular evolution, 1995-12, Vol.41 (6), p.966-973

1995

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The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

Brain (London, England : 1878), 1994-08, Vol.117 (4), p.645-649

1994

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Population variation analysis at nine loci containing expressed trinucleotide repeats

Annals of human genetics, 1997-09, Vol.61 (5), p.425-438

1997

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Acetazolamide-responsive episodic ataxia in an italian family refines gene mapping on chromosome 19p13

Brain (London, England : 1878), 1997-05, Vol.120 (5), p.805-812

1997

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Disequilibrium of multiple DNA markers on the human Y chromosome

Annals of human genetics, 1992-10, Vol.56 (4), p.303-310

1992

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Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations

Human biology, 1995-12, Vol.67 (6), p.905-920

1995

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The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

American journal of human genetics, 1993-08, Vol.53 (2), p.391-400

1993

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HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds

Acta neurologica Scandinavica, 1992-04, Vol.85 (4), p.257-265

1992

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Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

Annals of human genetics, 1996-09, Vol.60 (5), p.423-435

1996

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Latitude-Correlated Genetic Polymorphisms: Selection or Gene Flow?

Human biology, 2000-08, Vol.72 (4), p.557-571

2000

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Autosomal dominant pure cerebellar ataxia. Neurological and genetic study

Brain (London, England : 1878), 1992-12, Vol.115 ( Pt 6) (6), p.1647-1654

1992

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Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro

Brain research bulletin, 2001-10, Vol.56 (3-4), p.337-342

2001

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The EUROGEM map of human chromosome 6

European journal of human genetics : EJHG, 1994, Vol.2 (3), p.214-215

1994

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Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders: Nucleotide and protein expansions and human disease

Cytogenetic and genome research, 2003, Vol.100 (1-4), p.147-153

2003

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Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

Journal of medical genetics, 2004-06, Vol.41 (6), p.e82-e82

2004

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AUTOSOMAL DOMINANT PURE CEREBELLAR ATAXIA

Brain (London, England : 1878), 1992-12, Vol.115 (6), p.1647-1654

1992

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The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

American journal of human genetics, 1991-07, Vol.49 (1), p.23-30

1991

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

Gene, 2000-01, Vol.241 (1), p.45-50

2000

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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

The AXH module: an independently folded domain common to ataxin-1 and HBP1

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2

CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I

Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

Population variation analysis at nine loci containing expressed trinucleotide repeats

Acetazolamide-responsive episodic ataxia in an italian family refines gene mapping on chromosome 19p13

Disequilibrium of multiple DNA markers on the human Y chromosome

Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

Latitude-Correlated Genetic Polymorphisms: Selection or Gene Flow?

Autosomal dominant pure cerebellar ataxia. Neurological and genetic study

Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro

The EUROGEM map of human chromosome 6

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders: Nucleotide and protein expansions and human disease

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

AUTOSOMAL DOMINANT PURE CEREBELLAR ATAXIA

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

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

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