(Q54065107)

24 May 2018

title

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. (English)

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24 May 2018

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Mauger C

1

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24 May 2018

Del-Favero J

2

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24 May 2018

Ceuterick C

3

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24 May 2018

Lübke U

4

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24 May 2018

van Broeckhoven C

5

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24 May 2018

Martin J

6

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24 May 2018

publication date

1 December 1999

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24 May 2018

published in

Molecular Brain Research

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24 May 2018

volume

74

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24 May 2018

page(s)

35-43

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24 May 2018

issue

1-2

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24 May 2018

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

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Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

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Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

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Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

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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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Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

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

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

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Ubiquitin in neurodegenerative diseases

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

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Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?

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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

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

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7 January 2021

Expression of the Huntington's disease (IT15) protein product in HD patients

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7 January 2021

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

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7 January 2021

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

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7 January 2021

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

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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

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

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7 January 2021

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

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7 January 2021

10.1016/S0169-328X(99)00256-9

Identifiers

DOI

1 reference

24 May 2018

PubMed ID

10640674

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24 May 2018