Associated Papers
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.
Folta A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.
Wang X et al.
Italian Journal of Pediatrics, 2025
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y et al.
Channels (austin, Tex.), 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
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
Wang Q et al.
Frontiers in Neurology, 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-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 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
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A et al.
Neurology, 2013
Molecular determinants of common gating of a ClC chloride channel.
Bennetts B et al.
Nature Communications, 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
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Raheem O et al.
Neurology, 2012
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Recessive CLCN1 mutation presenting as Thomsen disease.
Thomas J et al.
Muscle & Nerve, 2008
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
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D et al.
Brain : a Journal of Neurology, 2007
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
Dunø M et al.
European Journal of Human Genetics : Ejhg, 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
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
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
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C et al.
Human Molecular Genetics, 1998
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