(Q43970160)

28 November 2017

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles (English)

1 reference

spinocerebellar ataxia type 1

28 November 2017

1 reference

Christine Zühlke

1

1 reference

28 November 2017

Andreas Dalski

2

1 reference

28 November 2017

Yorck Hellenbroich

3

1 reference

28 November 2017

Stefanie Bubel

4

1 reference

28 November 2017

Eberhard Schwinger

5

1 reference

28 November 2017

Katrin Bürk

6

1 reference

28 November 2017

1 March 2002

1 reference

European Journal of Human Genetics

28 November 2017

1 reference

28 November 2017

10

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28 November 2017

3

1 reference

28 November 2017

204-209

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200788

28 November 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Fourteen and counting: unraveling trinucleotide repeat diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Executive dysfunction in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

inferred from DOI database lookup

7 January 2021

based on heuristic

Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

inferred from DOI database lookup

7 January 2021

based on heuristic

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200788

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200788

1 reference

Dimensions Publication ID

28 November 2017

0 references

1 reference