(Q24678587)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

hyperkalemic periodic paralysis

1 reference

inferred from title

paramyotonia congenita

1 reference

L J Ptacek

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

J S Trimmer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

W S Agnew

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

J W Roberts

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

J H Petajan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

M Leppert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

language of work or name

English

0 references

publication date

1 October 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

851-854

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters

23 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit 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=1683172

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=1683172

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Primary structure and functional expression of a mammalian skeletal muscle sodium channel

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Potassium uptake in muscle during paramyotonic weakness.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683172

28 November 2018

The periodic paralyses

1 reference

12 December 2020

Lack of cold sensitivity in hyperkalemic periodic paralysis

1 reference

12 December 2020

Membrane defects in paramyotonia congenita (Eulenburg)

1 reference

12 December 2020

Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1654742%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference