(Q47936151)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15026782%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations (English)

1 reference

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25 December 2019

2

1 reference

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25 December 2019

author name string

Dineke S Verbeek

1

1 reference

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25 December 2019

Eric F A M Hennekam

3

1 reference

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25 December 2019

Elly F Ippel

4

1 reference

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25 December 2019

Peter L Pearson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15026782%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Richard J Sinke

6

1 reference

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25 December 2019

publication date

1 June 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15026782%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

25 December 2019

published in

1 reference

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25 December 2019

volume

12

1 reference

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25 December 2019

issue

6

1 reference

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25 December 2019

page(s)

441-446

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201167

25 December 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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/10.1038%2FSJ.EJHG.5201167

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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/10.1038%2FSJ.EJHG.5201167

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

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/10.1038%2FSJ.EJHG.5201167

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Tandem repeats finder: a program to analyze DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

7 January 2021

Spinocerebellar ataxia type 6: founder effect in Western Japan

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

7 January 2021

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

7 January 2021

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201167

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15026782%20AND%20SRC:MED&resulttype=core&format=json

release_hug6q4nerncezmc5tov3a7tvpu

25 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hug6q4nerncezmc5tov3a7tvpu

24 November 2022

mapped directly with Wikidata item

1 reference