Eleonora Canioni

Milan, Italy

Last Updated: 09/26/2026

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Found 13 publications

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

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

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

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

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Journal: Frontiers in neurology

Published: December 23, 2019

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Journal: Nucleus (Austin, Tex.)

Published: June 14, 2018

A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

Journal: Pharmacogenetics and genomics

Published: December 07, 2016

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

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

Published: May 21, 2016

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Journal: Neuromuscular disorders : NMD

Published: May 16, 2014

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

Journal: Journal of human genetics

Published: January 08, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026