(Q33857850)

29 July 2017

title

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (English)

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29 July 2017

main subject

spinocerebellar ataxia

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Koob MD

1

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29 July 2017

Moseley ML

2

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29 July 2017

Schut LJ

3

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29 July 2017

Benzow KA

4

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29 July 2017

Bird TD

5

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29 July 2017

Day JW

6

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29 July 2017

Ranum LP

7

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29 July 2017

language of work or name

English

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publication date

1 April 1999

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29 July 2017

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29 July 2017

volume

21

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29 July 2017

issue

4

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29 July 2017

page(s)

379-384

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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'.

29 July 2017

cites work

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7 January 2021

Unstable mutations and neurodegenerative disorders

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7 January 2021

Genes involved in hereditary ataxias

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7 January 2021

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

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7 January 2021

Expanding complexity in myotonic dystrophy

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7 January 2021

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

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7 January 2021

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

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7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

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7 January 2021

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

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7 January 2021

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

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7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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7 January 2021

Direct detection of novel expanded trinucleotide repeats in the human genome

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7 January 2021

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

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7 January 2021

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

7 January 2021

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

1 reference

7 January 2021

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

1 reference

7 January 2021

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

1 reference

7 January 2021

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

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7 January 2021

Do natural antisense transcripts make sense in eukaryotes?

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7 January 2021

What makes an mRNA anti-sense-itive?

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7 January 2021

Strategies for multilocus linkage analysis in humans

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7 January 2021

Identifiers

DOI

10.1038/7710

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29 July 2017

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