(Q35589292)

9 August 2017

1 reference

title

Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future (English)

1 reference

9 August 2017

Russell L Margolis

1

1 reference

9 August 2017

language of work or name

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1 November 2003

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

9 August 2017

published in

1 reference

9 August 2017

volume

3

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9 August 2017

issue

6

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9 August 2017

page(s)

715-732

1 reference

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

9 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

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

21 January 2018

1 reference

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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA).

21 January 2018

1 reference

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Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Huntingtin aggregation and toxicity in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Polyglutamine neurodegeneration: minding your Ps and Qs.

21 January 2018

1 reference

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Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

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

21 January 2018

1 reference

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Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila

21 January 2018

1 reference

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Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

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

21 January 2018

1 reference

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

The aetiology of sporadic adult-onset ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Presymptomatic tests in Huntington's disease and dominant ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.3.6.715

21 January 2018

Identifiers

DOI

10.1586/14737159.3.6.715

1 reference

release_rzgaho2bwfcnrc75mxddbwth2y

9 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rzgaho2bwfcnrc75mxddbwth2y

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference