(Q39123310)

9 September 2017

title

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. (English)

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9 September 2017

9

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9 September 2017

Rong Mao

1

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9 September 2017

Arthur S Aylsworth

2

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9 September 2017

Nicholas Potter

3

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9 September 2017

William G Wilson

4

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9 September 2017

Galen Breningstall

5

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9 September 2017

Myra J Wick

6

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9 September 2017

Dusica Babovic-Vuksanovic

7

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9 September 2017

Martha Nance

8

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9 September 2017

Christopher M Gomez

10

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9 September 2017

Karen Snow

11

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9 September 2017

publication date

1 July 2002

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American Journal of Medical Genetics Part A

9 September 2017

published in

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9 September 2017

volume

110

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9 September 2017

issue

4

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9 September 2017

page(s)

338-345

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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

9 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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/10.1002%2FAJMG.10467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

Detection of full fragile X mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10467

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/10.1002%2FAJMG.10467

21 January 2018

Identifiers

DOI

10.1002/AJMG.10467

1 reference

9 September 2017

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