(Q41510546)

1 October 2017

1 reference

title

From mutation to myotonia in sodium channel disorders (English)

1 reference

1 October 2017

Cannon SC

1

1 reference

1 October 2017

1 June 1997

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1 October 2017

Neuromuscular Disorders

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1 October 2017

7

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1 October 2017

241-249

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1 October 2017

4

1 reference

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

1 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Overexcited or inactive: ion channels in muscle disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Molecular pathology of the skeletal muscle sodium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

1 reference

7 January 2021

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

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%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

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%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Voltage-dependent gating of single sodium channels from mammalian neuroblastoma cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

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%2FS0960-8966%2897%2900430-6

7 January 2021

Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Sodium channel gating in clonal pituitary cells. The inactivation step is not voltage dependent

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Functional expression of sodium channel mutations identified in families with periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Structure and function of voltage-gated ion channels

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Inactivation of the sodium channel. II. Gating current experiments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Slow changes in currents through sodium channels in frog muscle membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Impaired slow inactivation in mutant sodium channels

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

THE AFTER-POTENTIAL THAT FOLLOWS TRAINS OF IMPULSES IN FROG MUSCLE FIBERS.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

On the repetitive discharge in myotonic muscle fibres

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900430-6

7 January 2021

10.1016/S0960-8966(97)00430-6

Identifiers

DOI

1 reference

1 October 2017

1 reference

PubMed ID

9196906