Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
39286500 (PubMed )
Supplement: mmc1.pdf
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Shibano M et al.
Muscle & Nerve, 2022
Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.
Malak OA et al.
Scientific Reports, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L et al.
Frontiers in Neurology, 2020
SCN4A as modifier gene in patients with myotonic dystrophy type 2.
Binda A et al.
Scientific Reports, 2018
Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav 1.4 cause periodic paralysis.
Fan C et al.
Clinical Genetics, 2017
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
Maggi L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2015
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