Raffaella Brugnoni

Milan, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletine.

Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletine.

Journal: Gene

Published: October 28, 2024

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.

Journal: Journal of neuromuscular diseases

Published: March 01, 2024

Diagnostics in skeletal muscle channelopathies.

Diagnostics in skeletal muscle channelopathies.

Journal: Expert review of molecular diagnostics

Published: November 27, 2023

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Journal: Genes

Published: July 17, 2023

Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.

Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.

Journal: Communications medicine

Published: July 05, 2023

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Journal: Journal of neuromuscular diseases

Published: April 03, 2023

Toll-like receptors and IL-7 as potential biomarkers for immune-mediated necrotizing myopathies.

Toll-like receptors and IL-7 as potential biomarkers for immune-mediated necrotizing myopathies.

Journal: European journal of immunology

Published: December 10, 2022

Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.

Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.

Journal: Experimental neurology

Published: November 06, 2022

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Journal: Neurogenetics

Published: June 29, 2021

Salbutamol as effective treatment in slow-channel syndrome- first report.

Salbutamol as effective treatment in slow-channel syndrome- first report.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: August 07, 2020

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Journal: Neuromuscular disorders : NMD

Published: June 15, 2020

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: February 06, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026