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
Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.
Jeng CJ et al.
Frontiers in Neurology, 2020
Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita.
Wei Z et al.
Neurological Research, 2019
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Ronstedt K et al.
Scientific Reports, 2015
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Raheem O et al.
Neurology, 2012
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