(Q54752346)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

2

1 reference

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19 December 2019

Paula Coutinho

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Jorge Sequeiros

8

1 reference

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19 December 2019

Isabel Silveira

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Sandra Martins

1

1 reference

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19 December 2019

author name string

Laura Guimarães

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

José Vale

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

João Guimarães

5

1 reference

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19 December 2019

Lina Ramos

6

1 reference

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19 December 2019

publication date

1 October 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512972%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

19 December 2019

published in

1 reference

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19 December 2019

volume

11

1 reference

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19 December 2019

issue

10

1 reference

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19 December 2019

page(s)

808-811

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201054

19 December 2019

exact match

0 references

cites work

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

A unique origin and multistep process for the generation of expanded DRPLA triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201054