The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. (Q51652739)

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22 January 2020

title

The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study (English)

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22 January 2020

5

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22 January 2020

Mark Wardle

1

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22 January 2020

Mustapha Muzaimi

3

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author name string

Elisa Majounie

2

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22 January 2020

Nigel M Williams

4

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22 January 2020

Neil P Robertson

6

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publication date

6 March 2009

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22 January 2020

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22 January 2020

volume

256

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issue

3

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page(s)

343-348

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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

22 January 2020

cites work

1 reference

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Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

21 January 2018

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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

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Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

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https://api.crossref.org/works/10.1007/S00415-009-0015-2

Case control analysis of repeat expansion size in ataxia

21 January 2018

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12 December 2020

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

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12 December 2020

The fragile-X premutation: a maturing perspective

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12 December 2020

Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6.

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12 December 2020

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

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12 December 2020

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

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12 December 2020

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

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12 December 2020

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12 December 2020

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

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12 December 2020

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

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12 December 2020

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics

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12 December 2020

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

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12 December 2020

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

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12 December 2020

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

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12 December 2020

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

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12 December 2020

Origin of the expansion mutation in myotonic dystrophy

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12 December 2020

High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan

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12 December 2020

Genetic background of apparently idiopathic sporadic cerebellar ataxia

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12 December 2020

10.1007/S00415-009-0015-2

Identifiers

DOI

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22 January 2020

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