(Q24674894)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

J K Fink

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

S Rainer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

J Wilkowski

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

S M Jones

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

A Kume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

P Hedera

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

R Albin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

J Mathay

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

L Girbach

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

T Varvil

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

B Otterud

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M Leppert

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 July 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

140-145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A calcium channel mutation causing hypokalemic periodic paralysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

The 1993-94 Généthon human genetic linkage map

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Localization of a human brain sodium channel gene (SCN2A) to chromosome 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A gene for episodic ataxia/myokymia maps to chromosome 12p13.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Paroxysmal dyskinesias: clinical features and classification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Paroxysmal dystonic choreoathetosis: A family study and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A late onset case of paroxysmal dystonic choreoathetosis induced by caffeine and aminophylline

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Paroxysmal myoclonic dystonia with vocalisations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915128

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8659518

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8659518

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8659518

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659518%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference