Associated Papers
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W et al.
Neurogenetics, 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
Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita.
Altamura C et al.
Frontiers in Pharmacology, 2022
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
Altamura C et al.
Frontiers in Neurology, 2020
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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