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
Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.
Elaraby NM et al.
Molecular Biology Reports, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Chloride channels with ClC-1-like properties differentially regulate the excitability of dopamine receptor D1- and D2-expressing striatal medium spiny neurons.
Yarotskyy V et al.
American Journal of Physiology. Cell Physiology, 2022
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
Musa NH et al.
Frontiers in Genetics, 2022
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Skeletal muscle ClC-1 chloride channels in health and diseases.
Altamura C et al.
Pflugers Archiv : European Journal of Physiology, 2020
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C et al.
Plos One, 2020
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?
Licchetta L et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2014
Nondystrophic myotonia: challenges and future directions.
Trivedi JR et al.
Experimental Neurology, 2014
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
Brugnoni R et al.
Journal of Human Genetics, 2013
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
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
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
Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.
Cederholm JM et al.
The International Journal of Biochemistry & Cell Biology, 2010
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
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Expression of novel isoforms of the CIC-1 chloride channel in astrocytic glial cells in vitro.
Zhang XD et al.
Glia, 2004
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
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Wu FF et al.
Brain : a Journal of Neurology, 2002
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 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
Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy. 10-11 March 2000, Bari, Italy.
Desaphy JF et al.
Neuromuscular Disorders : Nmd, 2001
Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations.
Aromataris EC et al.
Molecular Pharmacology, 2001
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia.
Saviane C et al.
The Journal of General Physiology, 1999
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
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
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
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.
Koty PP et al.
Neurology, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0