Molecular genetics of ion channel diseases (Q40950216)

25 September 2017

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title

Molecular genetics of ion channel diseases (English)

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25 September 2017

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George AL Jr

1

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25 September 2017

language of work or name

English

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publication date

1 October 1995

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25 September 2017

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25 September 2017

volume

48

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25 September 2017

issue

4

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25 September 2017

page(s)

1180-1190

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https://scigraph.springernature.com/pub.10.1038/ki.1995.401

25 September 2017

exact match

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cites work

The physiology of striated muscle

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

The dual effect of membrane potential on sodium conductance in the giant axon of Loligo

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Characteristics of the chloride conductance in muscle fibers of the rat diaphragm

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Genetics and physiology of the myotonic muscle disorders

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

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https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Membrane changes in cells from myotonia patients

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

The myotonic mouse mutant ADR: electrophysiology of the muscle fiber

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

On the repetitive discharge in myotonic muscle fibres

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Membrane defects in paramyotonia congenita (Eulenburg)

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

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/10.1038%2FKI.1995.401

7 January 2021

Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Cellular and molecular biology of voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Different gene loci for hyperkalemic and hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Linkage of atypical myotonia congenita to a sodium channel locus

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Linkage analysis of candidate loci in autosomal dominant myotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

The genomic structure of the human skeletal muscle sodium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Genomic organization of the human skeletal muscle sodium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Structural parts involved in activation and inactivation of the sodium channel

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

https://api.crossref.org/works/10.1038%2FKI.1995.401

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Junctional feet and particles in the triads of a fast-twitch muscle fibre

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Purified ryanodine receptor of skeletal muscle sarcoplasmic reticulum forms Ca2+-activated oligomeric Ca2+ channels in planar bilayers

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Voltage Dependent Charge Movement in Skeletal Muscle: a Possible Step in Excitation–Contraction Coupling

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Involvement of dihydropyridine receptors in excitation–contraction coupling in skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Primary structure of the receptor for calcium channel blockers from skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Calcium currents in a fast-twitch skeletal muscle of the rat

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Slow inward calcium currents have no obvious role in muscle excitation–contraction coupling

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Dihydropyridine receptors in muscle are voltage-dependent but most are not functional calcium channels

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Muscular dysgenesis in mice: a model system for studying excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Muscular dysgenesis: a model system for studying skeletal muscle development

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Abnormal transverse tubule system and abnormal amount of receptors for Ca2+ channel inhibitors of the dihydropyridine family in skeletal muscle from mice with embryonic muscular dysgenesis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Intramembrane charge movement restored in dysgenic skeletal muscle by injection of dihydropyridine receptor cDNAs

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Kinetic studies of Ca2+ release from sarcoplasmic reticulum of normal and malignant hyperthermia susceptible pig muscles

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Effects of the halothane-sensitivity gene on sarcoplasmic reticulum function.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Malignant hyperthermia. Dantrolene--dynamics and kinetics

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Functional expression of the calcium release channel from skeletal muscle ryanodine receptor cDNA.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11----q21 segment of chromosome 6.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Reconstitution of abnormalities in the malignant hyperthermia-susceptible pig ryanodine receptor

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Biochemistry and biophysics of excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1038%2FKI.1995.401

7 January 2021

Identifiers

DOI

10.1038/KI.1995.401

1 reference

25 September 2017

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