(Q40407727)

20 September 2017

title

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset (English)

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spinocerebellar ataxia type 2

20 September 2017

main subject

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Stefan-M Pulst

1

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20 September 2017

Nieves Santos

2

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20 September 2017

Dai Wang

3

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20 September 2017

Huiying Yang

4

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20 September 2017

Duong Huynh

5

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20 September 2017

Luis Velazquez

6

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20 September 2017

K Pattie Figueroa

7

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20 September 2017

language of work or name

English

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publication date

6 July 2005

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20 September 2017

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20 September 2017

volume

128

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20 September 2017

issue

Pt 10

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20 September 2017

page(s)

2297-2303

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Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.

20 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

21 January 2018

1 reference

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Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Reduced Purkinje cell density in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Synapses in the hereditary ataxias.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH586

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWH586

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20 September 2017

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