Associated Papers
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
Imbrici P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
Recessive CLCN1 mutation presenting as Thomsen disease.
Thomas J et al.
Muscle & Nerve, 2008
Novel chloride channel mutations leading to mild myotonia among Chinese.
Burgunder JM et al.
Neuromuscular Disorders : Nmd, 2008
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Muscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K et al.
The Journal of Clinical Investigation, 2005
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
Jou SB et al.
Journal of Neurology, 2004
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Colding-Jørgensen E et al.
Muscle & Nerve, 2003
A novel alteration of muscle chloride channel gating in myotonia levior.
Ryan A et al.
The Journal of Physiology, 2002
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Sun C et al.
European Journal of Human Genetics : Ejhg, 2001
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
Brugnoni R et al.
Human Mutation, 1999
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C et al.
Human Molecular Genetics, 1998
The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.
Wagner S et al.
Muscle & Nerve, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Beck CL et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George AL et al.
Human Molecular Genetics, 1994
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0