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Expert Review of Molecular Diagnostics|November 27, 2023
Diagnostics in skeletal muscle channelopathiesAlex Vicino, Raffaella Brugnoni, Lorenzo Maggi
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 11, 2017
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE geneAnna Ardissone, Isabella Moroni, Pia Bernasconi, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 2, 2020
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levelsFrancesca Bianchi, Costanza Simoncini, Raffaella Brugnoni, et al.
Journal of Neuromuscular Diseases|April 3, 2023
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the LiteratureMarta Cheli, Raffaella Brugnoni, Sara Gibertini, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 21, 2016
Imaging alterations in skeletal muscle channelopathies: a study in 15 patientsLorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.
Genes|September 28, 2023
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature ReviewRaffaella Brugnoni, Daria Marelli, Nicola Iacomino, et al.
Gene|May 5, 2025
Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletineRaffaella Brugnoni, Erika Salvi, Elisa Moresco, et al.
Journal of Neurology|February 17, 2010
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromesRaffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, et al.
Journal of Neuromuscular Diseases|March 1, 2024
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel MyotoniaCarmen Campanale, Paola Laghetti, Ilaria Saltarella, et al.
European Journal of Immunology|August 10, 2023
Toll-like receptors and IL-7 as potential biomarkers for immune-mediated necrotizing myopathiesCristina Cappelletti, Raffaella Brugnoni, Silvia Bonanno, et al.
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