Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats (Q24317096)

nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

spinocerebellar ataxia

1 reference

14

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Alexis Brice

15

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Jean-Louis Mandel

8

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Yvon Trottier

Y Trottier

5

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Gael Yvert

G Yvert

3

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Geraldine Cancel-Tassin

G Cancel

9

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Giovanni Stevanin

G Stevanin

13

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Alexandra Durr

11

A Dürr

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author name string

G Imbert

1

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F Saudou

2

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D Devys

4

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J M Garnier

6

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C Weber

7

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N Abbas

10

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O Didierjean

Development of a screening set for new (CAG/CTG)n dynamic mutations

12

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language of work or name

English

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publication date

November 1996

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published in

Nature Genetics

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volume

14

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issue

3

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page(s)

285-91

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cites work

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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

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Genes with triplet repeats: candidate mediators of neuropsychiatric disorders

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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

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Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus

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Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families

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Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

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Characterization of four novel CAG repeat-containing cDNAs

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Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders

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A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

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Huntington's disease: CAG genetics expands neurobiology

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The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

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

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

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Guidelines for the molecular genetics predictive test in Huntington's disease

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

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

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

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

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Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

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Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

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Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

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

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Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

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Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features

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Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

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Anticipation in spinocerebellar ataxia type 2

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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Autoregulatory frameshifting in decoding mammalian ornithine decarboxylase antizyme

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