Associated Papers
Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia.
Gaitán-Peñas H et al.
The Journal of Physiology, 2024
Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.
Jacobsen LN et al.
European Journal of Neurology, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Thomsen disease with ptosis and abnormal MR findings.
Mori Y et al.
Neuromuscular Disorders : Nmd, 2016
Thomsen myotonia--A 4-generation family with a new mutation and a mild phenotype.
Derevenciuc AI et al.
Muscle & Nerve, 2016
Nondystrophic myotonia: challenges and future directions.
Trivedi JR et al.
Experimental Neurology, 2014
In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.
Hoppe K et al.
Acta Anaesthesiologica Scandinavica, 2013
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Chen TT et al.
Neurology, 2013
A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
Tsujino A et al.
Neuroscience Letters, 2011
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni A et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
Shalata A et al.
Muscle & Nerve, 2010
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
Moon IS et al.
Journal of Korean Medical Science, 2009
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Trip J et al.
European Journal of Human Genetics : Ejhg, 2008
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Clinical evaluation of membrane excitability in muscle channel disorders: potential applications in clinical trials.
Cleland JC et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 2006
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Colding-Jørgensen E et al.
Muscle & Nerve, 2003
Involvement of helices at the dimer interface in ClC-1 common gating.
Duffield M et al.
The Journal of General Physiology, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Molecular structure and physiological function of chloride channels.
Jentsch TJ et al.
Physiological Reviews, 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
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
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
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
Wollnik B et al.
Human Molecular Genetics, 1997
Subunit stoichiometry of human muscle chloride channels.
Fahlke C et al.
The Journal of General Physiology, 1997
Heteromultimeric CLC chloride channels with novel properties.
Lorenz C et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
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
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Meyer-Kleine C et al.
American Journal of Human Genetics, 1995
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
The skeletal muscle sodium and chloride channel diseases.
Hudson AJ et al.
Brain : a Journal of 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
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
Lorenz C et al.
Human Molecular Genetics, 1994
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
Steinmeyer K et al.
The Embo Journal, 1994
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0
[Malignant hyperthermia or myotonia congenita].
Amores Lloret A et al.
Revista Espanola De Anestesiologia Y Reanimacion, 0