Identification of a mutation in the gene causing hyperkalemic periodic paralysis (Q24314688)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

A. L. George

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

R. C. Griggs

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

R. Tawil

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

R. G. Kallen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

R. L. Barchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

M. Robertson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

23 October 2022

M. F. Leppert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1659948

full work available at URL

23 October 2022

language of work or name

English

0 references

publication date

29 November 1991

0 references

https://api.elsevier.com/content/article/PII:0092867491903748?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

https://api.elsevier.com/content/article/PII:0092867491903748?httpAccept=text/plain

23 October 2022

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

23 October 2022

0 references

67

0 references

page(s)

1021-7

0 references

issue

5

0 references

cites work

Progressive myopathy in hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Identification and characterization of the familial adenomatous polyposis coli gene

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Identification of deletion mutations and three new genes at the familial polyposis locus

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Existence of distinct sodium channel messenger RNAs in rat brain

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Structural parts involved in activation and inactivation of the sodium channel

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Calcium and ischemic injury

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Inactivation of the sodium channel. II. Gating current experiments

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Molecular structure of sodium channels

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Biophysical and molecular mechanisms of Shaker potassium channel inactivation

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Changes in sodium channel gating produced by point mutations in a cytoplasmic linker

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Identification of an intracellular peptide segment involved in sodium channel inactivation

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Probing the molecular structure of the voltage-dependent sodium channel

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Molecular diversity of voltage-sensitive Na channels

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

Regulation of plasma potassium in hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2891%2990374-8

7 January 2021

A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel

2

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

The myotonic disorders and the periodic paralyses

23 October 2022

13

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

Molecular model of the action potential sodium channel

23 October 2022

15

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

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

23 October 2022

31

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8

Linkage of atypical myotonia congenita to a sodium channel locus

23 October 2022

33

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90374-8