(Q24310393)

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

author

Yves Agid

17

0 references

Alexis Brice

19

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Jean-Louis Mandel

18

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Gael Yvert

G Yvert

5

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Geraldine Cancel-Tassin

G Cancel

6

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Paola Giunti

P Giunti

13

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Giovanni Stevanin

G Stevanin

3

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Nicholas W. Wood

N Wood

15

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Alexandra Durr

4

A Dürr

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author name string

G David

1

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N Abbas

2

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C Weber

7

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G Imbert

8

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F Saudou

9

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E Antoniou

10

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H Drabkin

11

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R Gemmill

12

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A Benomar

14

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M Ruberg

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

16

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language of work or name

English

0 references

publication date

September 1997

0 references

published in

Nature Genetics

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volume

17

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issue

1

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page(s)

65-70

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cites work

1 reference

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

20 April 2017

1 reference

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

20 April 2017

1 reference

Nuclear targeting sequences--a consensus?

20 April 2017

1 reference

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

20 April 2017

1 reference

Olivopontocerebellar atrophy. A review of 117 cases

20 April 2017

1 reference

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

21 January 2018

1 reference

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation

21 January 2018

1 reference

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

1 reference

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.

21 January 2018

1 reference

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

21 January 2018

1 reference

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

21 January 2018

1 reference

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

21 January 2018

1 reference

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

21 January 2018

1 reference

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

21 January 2018

1 reference

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

21 January 2018

1 reference

7 January 2021

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families

1 reference

7 January 2021

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

1 reference

7 January 2021

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

1 reference

7 January 2021

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

1 reference

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

7 January 2021

Breaking the rule of three

1 reference

7 January 2021

Genetics of movement disorders

1 reference

7 January 2021

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

1 reference

7 January 2021

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

1 reference

7 January 2021

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

1 reference

7 January 2021

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

1 reference

7 January 2021

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

1 reference

7 January 2021

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

1 reference

7 January 2021

1 reference

7 January 2021

Is differential regulation of mitochondrial transcripts in Parkinson's disease related to apoptosis?

1 reference

7 January 2021