(Q24317328)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

C L Beck

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A L George

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

2729-2734

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

Molecular basis for decreased muscle chloride conductance in the myotonic goat

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

The skeletal muscle chloride channel in dominant and recessive human myotonia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Subunit stoichiometry of human muscle chloride channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Mechanism of voltage-dependent gating in skeletal muscle chloride channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Molecular determinants of Ca2+ selectivity and ion permeation in L-type Ca2+ channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Interaction of Tetraethylammonium Ion Derivatives with the Potassium Channels of Giant Axons

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Calcium channel characteristics conferred on the sodium channel by single mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=20158

Chapter 2 Molecular Biology of Voltage-Gated Chloride Channels

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.6.2729

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.6.2729

Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.6.2729

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

21 January 2018

1 reference

12 December 2020

Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax

1 reference

12 December 2020

Visual identification of individual transfected cells for electrophysiology using antibody-coated beads

1 reference

12 December 2020

On the repetitive discharge in myotonic muscle fibres

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.94.6.2729

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9122265%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference