(Q28200233)

2

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J H Shaw

3

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P Lorentzos

4

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L Kelly

5

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R J McKinley Gardner

6

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S M Forrest

7

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I Biros

8

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G A Nicholson

American Journal of Medical Genetics Part A

9

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language of work or name

English

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publication date

11 December 2000

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published in

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volume

95

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issue

4

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page(s)

351-7

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cites work

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

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

21 January 2018

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Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

21 January 2018

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

21 January 2018

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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

21 January 2018

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Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

21 January 2018

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Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.

21 January 2018

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

21 January 2018

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

21 January 2018

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Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

21 January 2018

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

21 January 2018

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Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

21 January 2018

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Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.

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

21 January 2018

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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

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Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

21 January 2018

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Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

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Clinical and molecular features of spinocerebellar ataxia type 6

21 January 2018

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