Associated Papers
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
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.
Zhou C et al.
Genome Medicine, 2019
31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.B
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
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
Simpson BJ et al.
Human Mutation, 2004
Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
Grunnet M et al.
Muscle & Nerve, 2003
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Colding-Jørgensen E et al.
Muscle & Nerve, 2003
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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