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
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C et al.
Human Mutation, 2018
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
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Ulzi G et al.
Journal of the Neurological Sciences, 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
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