Myotonia caused by mutations in the muscle chloride channel gene CLCN1. (Q34122131)

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8 December 2019

review article

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title

Myotonia caused by mutations in the muscle chloride channel gene CLCN1 (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933197 AND SRC:MED&resulttype=core&format=json

8 December 2019

1

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8 December 2019

author name string

Michael Pusch

series ordinal

1

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31 July 2017

publication date

1 April 2002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933197 AND SRC:MED&resulttype=core&format=json

8 December 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933197 AND SRC:MED&resulttype=core&format=json

8 December 2019

volume

19

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933197 AND SRC:MED&resulttype=core&format=json

8 December 2019

issue

4

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8 December 2019

page(s)

423-434

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Fast and slow gating relaxations in the muscle chloride channel CLC-1.

8 December 2019

cites work

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7 January 2021

Modulation of the gating of CIC-1 by S-(-) 2-(4-chlorophenoxy) propionic acid

1 reference

7 January 2021

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

1 reference

7 January 2021

Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats

1 reference

7 January 2021

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

1 reference

7 January 2021

Chloride conductance in mouse muscle is subject to post‐transcriptional compensation of the functional Cl− channel 1 gene dosage

1 reference

7 January 2021

Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel

1 reference

7 January 2021

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

1 reference

7 January 2021

Transient weakness and compound muscle action potential decrement in myotonia congenita

1 reference

7 January 2021

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Pore-forming segments in voltage-gated chloride channels

1 reference

7 January 2021

Pore stoichiometry of a voltage-gated chloride channel

1 reference

7 January 2021

The pathophysiology of myotonia produced by aromatic carboxylic acids

1 reference

7 January 2021

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

1 reference

7 January 2021

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

1 reference

7 January 2021

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

1 reference

7 January 2021

The CLC chloride channel family

1 reference

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

7 January 2021

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

1 reference

7 January 2021

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

1 reference

7 January 2021

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

7 January 2021

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

1 reference

7 January 2021

Myotonia levior is a chloride channel disorder.

1 reference

7 January 2021

A common molecular basis for three inherited kidney stone diseases

1 reference

7 January 2021

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

1 reference

7 January 2021

Two physically distinct pores in the dimeric ClC-0 chloride channel.

1 reference

7 January 2021

Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions

1 reference

7 January 2021

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

1 reference

7 January 2021

Homodimeric architecture of a ClC-type chloride ion channel

1 reference

7 January 2021

Open-state substructure of single chloride channels from Torpedo electroplax

1 reference

7 January 2021

Dimeric structure of single chloride channels from Torpedo electroplax

1 reference

7 January 2021

Projection structure of a ClC-type chloride channel at 6.5 A resolution

1 reference

7 January 2021

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

1 reference

7 January 2021

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

1 reference

7 January 2021

Founder mutations and the high prevalence of myotonia congenita in northern Finland

1 reference

7 January 2021

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

1 reference

7 January 2021

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

1 reference

7 January 2021

Identification of homer as a homologue of the Wiskott-Aldrich syndrome protein suggests a receptor-binding function for WH1 domains

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Chloride dependence of hyperpolarization-activated chloride channel gates

1 reference

7 January 2021

Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(p-chlorophenoxy)butyric acid (CPB).

1 reference

7 January 2021

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)

1 reference

7 January 2021

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

1 reference

7 January 2021

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

1 reference

7 January 2021

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia

1 reference

7 January 2021

Transmembrane topology of a CLC chloride channel

1 reference

7 January 2021

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

1 reference

7 January 2021

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

1 reference

7 January 2021

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

1 reference

7 January 2021

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

1 reference

7 January 2021

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

1 reference

7 January 2021

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

1 reference

7 January 2021

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

1 reference

7 January 2021

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations

1 reference

7 January 2021

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

1 reference

7 January 2021

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

1 reference

7 January 2021

Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation

1 reference

7 January 2021