(Q52803969)

8 May 2018

title

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. (English)

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8 May 2018

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2

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Isabel Silveira

3

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Jorge Sequeiros

4

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Paula Coutinho

6

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author name string

J Vale

1

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J Guimarães

5

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publication date

29 July 2009

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European Journal of Neurology

published in

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volume

17

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issue

1

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page(s)

124-128

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8 May 2018

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

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Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

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

21 January 2018

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A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

21 January 2018

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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

The hereditary adult-onset ataxias in South Africa

21 January 2018

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Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

21 January 2018

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Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02757.X

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

21 January 2018

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Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.

21 January 2018

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21 January 2018

Identifiers

DOI

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8 May 2018

PubMed ID

19659750

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8 May 2018