(Q48912148)

PubMed ID

8815882

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8815882%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting (English)

1 reference

PubMed ID

8815882

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8815882%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

author name string

D C Kohrman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

M R Smith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

J Harris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

M H Meisler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

language of work or name

English

0 references

publication date

1 October 1996

1 reference

PubMed ID

8815882

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8815882%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

issue

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

page(s)

5993-5999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

A voltage-dependent gating transition induces use-dependent block by tetrodotoxin of rat IIA sodium channels expressed in Xenopus oocytes.

15 May 2020

cites work

1 reference

12 December 2020

Novel voltage clamp to record small, fast currents from ion channels expressed in Xenopus oocytes

1 reference

12 December 2020

Disruption of the nuclear hormone receptor RORalpha in staggerer mice

1 reference

12 December 2020

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

12 December 2020

Putative receptor for the cytoplasmic inactivation gate in the Shaker K+ channel

1 reference

12 December 2020

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

1 reference

12 December 2020

Physiological and biochemical studies on the cerebellar cortex of the murine mutants "jolting" and "motor end-plate disease"

1 reference

12 December 2020

Cellular and molecular biology of voltage-gated sodium channels

1 reference

12 December 2020

A novel, abundant sodium channel expressed in neurons and glia

1 reference

12 December 2020

Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels

1 reference

12 December 2020

Electrophysiological properties of in vitro Purkinje cell dendrites in mammalian cerebellar slices

1 reference

12 December 2020

Site-directed mutagenesis of the putative pore region of the rat IIA sodium channel.

1 reference

12 December 2020

Neuromuscular transmission in the murine mutants "motor end-plate disease" and "jolting"

1 reference

12 December 2020

A cerebellar abnormality in the mouse with motor end-plate disease.

1 reference

12 December 2020

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

1 reference

12 December 2020

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.

1 reference

12 December 2020

The genomic structure of the human skeletal muscle sodium channel gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

12 December 2020

Inherited muscle and nerve diseases in mice: a tabulation with commentary

1 reference

12 December 2020

Electrophysiological properties of in vitro Purkinje cell somata in mammalian cerebellar slices

1 reference

12 December 2020

Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels

1 reference

12 December 2020

Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

1 reference

12 December 2020

Chapter 25 Expression of Ion Channels by Injection of mRNA into Xenopus Oocytes

1 reference

12 December 2020

1 reference

12 December 2020

A role for hydrophobic residues in the voltage-dependent gating of Shaker K+ channels

1 reference

12 December 2020

Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15.

1 reference

12 December 2020

Electrophysiological studies of neuromuscular transmission in hereditary 'motor end-plate disease' of the mouse.

1 reference

12 December 2020

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

1 reference

12 December 2020

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

1 reference

12 December 2020

Basic local alignment search tool

1 reference

12 December 2020

10.1523/JNEUROSCI.16-19-05993.1996

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6579185&resulttype=core&format=json

15 May 2020

1 reference