(Q28249418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 6

6 November 2019

main subject

cerebellum

0 references

1 reference

based on heuristic

inferred from title

episodic ataxia type 2

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Liana Veneziano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Flavia Trettel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

C Jodice

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

G Sabbadini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L Calandriello

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A Francia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Spadaro

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

F Pierelli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

F Salvi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

R A Ophoff

11

1 reference

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6 November 2019

R R Frants

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Frontali

13

1 reference

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6 November 2019

language of work or name

English

0 references

publication date

1 October 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

published in

Human Molecular Genetics

1 reference

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6 November 2019

volume

6

1 reference

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6 November 2019

page(s)

1973-1978

1 reference

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6 November 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Towards a unified nomenclature describing voltage-gated calcium channel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

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/10.1093%2FHMG%2F6.11.1973

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

The expanding world of ataxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Mutation of human short tandem repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

Dinucleotide repeat polymorphism in the human RFX1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1973

21 January 2018

Identifiers

DOI

10.1093/HMG/6.11.1973

2 references

Consolidated OpenCitations Corpus – April 2017

4679190

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302278%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

4679190

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4679190