Sabrina Lucchiari
Milan, Italy
Last Updated: 09/26/2026
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Found 22 publications
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: January 07, 2026
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Journal: Frontiers in genetics
Published: February 10, 2025
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Journal: Frontiers in genetics
Published: August 29, 2024
Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: August 08, 2024
Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 30, 2024
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
Journal: Frontiers in neurology
Published: December 21, 2023
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 30, 2021
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 29, 2021
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4.
Journal: Frontiers in neurology
Published: December 23, 2019
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.
Journal: Human mutation
Published: March 27, 2018
Last Updated: 09/26/2026