Associated Papers
Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.
Tikhonova TB et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C et al.
Journal of Neuromuscular Diseases, 2024
Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Vacchiano V et al.
Experimental Neurology, 2023
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Brugnoni R et al.
Neuromuscular Disorders : Nmd, 2021
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
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