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Myotonia congenita

author

Christoph Lossin

published in: Advances in Genetics

date of publication: 2008

language: English

Cites articles 106

Date

Title

Authors

2008-01-31

Constrained analogues of tocainide as potent skeletal muscle sodium channel blockers towards the development of antimyotonic agents.

Filomena Corbo, Carlo Franchini, Annamaria De Luca, Michela De Bellis, Antonio Scilimati, Diana Conte Camerino
2008-09-23

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.

Stephanie Schorge, Dimitri Kullmann, Michael Hanna
2008-03-01

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
2008-03-12

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

Gea Drost, Jan J Verschuuren, Nicolette C Notermans
2008-06

Extraocular muscle hypertrophy in myotonia congenita

Ian Macdonald
2007-05-18

Prolonged myotonia and dystonia after general anaesthesia in a patient taking gabapentin.
2007-10-11

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions

Stephanie Schorge, Dimitri Kullmann, Michael Hanna
2006-05-01

Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita
2006-07-18

Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation

Arun V Krishnan
2006-10-09

Effects of chronic treatment with statins and fenofibrate on rat skeletal muscle: a biochemical, histological and electrophysiological study

Caterina Rizzo, Sabata Pierno, Giulia Chiesa, Antonio Frigeri, Eugenio Scanziani, Maria Svelto
2006-05-01

Myotonia congenita--a successful response to carbamazepine
2006-01-25

Drug treatment for myotonia

Gea Drost
2006-04-01

Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia

Mireille Van Beekvelt, Gea Drost
2005-07-01

Phenotypic variability in myotonia congenita
2005-12-01

The effect of dehydroepiandrosterone sulfate (DHEAS) on myotonia: intracellular studies
2005-07-01

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5

Alessandra Picollo, Michael Pusch
2004-02-01

Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels.
2004-05-01

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita
2004-09-01

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

Thomas Jespersen
2004-06-01

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita
2004-08-01

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.

Grigori Y Rychkov
2003-04-01

Decrement of compound muscle action potential is related to mutation type in myotonia congenita
2003-04-04

Gating the selectivity filter in ClC chloride channels

Roderick MacKinnon
2003-05-01

Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders

Laurence Bindoff, Elisabeth Farbu
2002-01-17

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

Roderick MacKinnon, Martine Cadene
2002-07-01

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
2002-12-01

Functional repair of a mutant chloride channel using a trans-splicing ribozyme
2002-11-01

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

Christoph Fahlke, Tiziana Mongini, Eric Hoffman
2001-07-01

Different fast-gate regulation by external Cl(-) and H(+) of the muscle-type ClC chloride channels
2001-03-01

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

Tatsufumi Murakami
2001-12-01

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
2000-01-01

Mechanisms of toxicity, clinical features, and management of acute chlorophenoxy herbicide poisoning: a review

Article - wd:Q28308020

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