Associated Papers
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y et al.
Channels (austin, Tex.), 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Clinical analysis in patients with SPG11 hereditary spastic paraplegia.
Kang YR et al.
Frontiers in Neurology, 2023
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X et al.
Channels (austin, Tex.), 2017
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita.
Nam TS et al.
Journal of Clinical Neurology (seoul, Korea), 2015
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
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
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
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
CLC chloride channels: correlating structure with function.
Estévez R et al.
Current Opinion in Structural Biology, 2002
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
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
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
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0