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
Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.
Di Stefano G et al.
Cephalalgia : an International Journal of Headache, 2020
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
Orsini C et al.
Frontiers in Neurology, 2020
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
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S4.xlsx › Foglio1
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
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