(Q33868903)

29 July 2017

title

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

1 reference

autosomal dominant cerebellar ataxia type III

29 July 2017

main subject

0 references

author name string

Worth PF

1

1 reference

29 July 2017

Giunti P

2

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29 July 2017

Gardner-Thorpe C

3

1 reference

29 July 2017

Dixon PH

4

1 reference

29 July 2017

Davis MB

5

1 reference

29 July 2017

Wood NW

6

1 reference

29 July 2017

language of work or name

English

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publication date

1 August 1999

1 reference

American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

volume

65

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29 July 2017

issue

2

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29 July 2017

page(s)

420-426

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

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

A comprehensive genetic map of the human genome based on 5,264 microsatellites

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Clinical features and classification of inherited ataxias.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Direct detection of novel expanded trinucleotide repeats in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Faster sequential genetic linkage computations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Computer-simulation methods in human linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Easy calculations of lod scores and genetic risks on small computers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377940

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

29 October 2018

1 reference

12 December 2020

Clinical and molecular features of spinocerebellar ataxia type 6

1 reference

12 December 2020

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

1 reference

12 December 2020

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

1 reference

12 December 2020

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

12 December 2020

Identifiers

DOI

10.1086/302495

1 reference

29 July 2017

1 reference

29 July 2017

1 reference