Associated Papers
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
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
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
Lucchiari S et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2013
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
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
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
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