(Q81668452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 14

11 January 2020

main subject

1 reference

Dineke S Verbeek

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Bart P C van de Warrenburg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

F A M Hennekam

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Dennis Dooijes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

P F Ippel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Corien C Verschuuren-Bemelmans

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

H P H Kremer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Richard J Sinke

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

publication date

20 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

88-91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841389%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-005-1278-z

11 January 2020

exact match

0 references

cites work

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

1 reference

12 December 2020

Spinocerebellar ataxia type 6: founder effect in Western Japan

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

1 reference

12 December 2020

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

1 reference

12 December 2020