Associated Papers
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Lucchiari S et al.
Frontiers in Genetics, 2024
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
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
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
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Ulzi G et al.
Journal of the Neurological Sciences, 2012
Select a paper to view details