(Q35197093)

7 August 2017

title

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

1 reference

hyperkalemic periodic paralysis

7 August 2017

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

author name string

L. J. Ptacek

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

F. Tyler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

J. S. Trimmer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

W. S. Agnew

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

M. Leppert

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

21 October 2022

language of work or name

English

0 references

publication date

1 August 1991

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1651050/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1651050/?tool=EBI

21 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

https://europepmc.org/articles/PMC1683285

21 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

https://europepmc.org/articles/PMC1683285?pdf=render

21 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1651050

American Journal of Human Genetics

21 October 2022

published in

1 reference

7 August 2017

volume

49

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

378-382

1 reference

Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Adynamia episodica hereditaria. Clinical, pathological and electrophysiological studies in an affected family.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Rapid transfer of DNA from agarose gels to nylon membranes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Existence of distinct sodium channel messenger RNAs in rat brain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

A mapped set of DNA markers for human chromosome 17.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Molecular cloning of a putative tetrodotoxin-resistant rat heart Na+ channel isoform

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Molecular analysis of the para locus, a sodium channel gene in Drosophila.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Molecular diversity of voltage-sensitive Na channels

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Genomic organization and deduced amino acid sequence of a putative sodium channel gene in Drosophila.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Modifications to improve the effectiveness of restriction fragment length polymorphism typing.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

Adynamia episodica hereditaria: what causes the weakness?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683285

26 September 2018

1 reference

12 December 2020

The periodic paralyses

1 reference

12 December 2020

Exercise and rest in hyperkalemic periodic paralysis

1 reference

12 December 2020

Molecular structure of sodium channels

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

The exercise test in periodic paralysis

1 reference

12 December 2020

Identifiers

PMC publication ID

1683285

1 reference

7 August 2017

1 reference