Eleonora Canioni
Overview
Explore the profile of Eleonora Canioni including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
144
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0
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Recent Articles
1.
Campanale C, Laghetti P, Saltarella I, Altamura C, Canioni E, Iosa E, et al.
J Neuromuscul Dis
. 2024 Mar;
11(3):725-734.
PMID: 38427496
Background: The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia,...
2.
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review
Brugnoni R, Marelli D, Iacomino N, Canioni E, Cappelletti C, Maggi L, et al.
Genes (Basel)
. 2023 Sep;
14(9).
PMID: 37761893
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the gene encoding the protein perlecan, a major component of basement membranes. We...
3.
Cappelletti C, Brugnoni R, Bonanno S, Andreetta F, Salerno F, Canioni E, et al.
Eur J Immunol
. 2023 Aug;
53(11):e2250326.
PMID: 37562045
We aimed to verify whether the immune system may represent a source of potential biomarkers for the stratification of immune-mediated necrotizing myopathies (IMNMs) subtypes. A group of 22 patients diagnosed...
4.
Vacchiano V, Brugnoni R, Campanale C, Imbrici P, Dinoi G, Canioni E, et al.
Exp Neurol
. 2023 Jan;
362:114342.
PMID: 36720299
Non-dystrophic myotonias include several entities with possible clinical overlap, i.e. myotonia congenita caused by CLCN1 gene mutations, as well as paramyotonia congenita and sodium channel myotonia caused by SCN4A gene...
5.
Brugnoni R, Canioni E, Filosto M, Pini A, Tonin P, Rossi T, et al.
Neurogenetics
. 2021 Oct;
23(1):19-25.
PMID: 34608571
Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according...
6.
Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, et al.
Neuromuscul Disord
. 2021 Feb;
31(4):336-347.
PMID: 33573884
Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes...
7.
Maggi L, Brugnoni R, Canioni E, Tonin P, Saletti V, Sola P, et al.
Front Neurol
. 2020 Aug;
11:646.
PMID: 32849172
Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic paralysis (HyperPP/NormoPP); in...
8.
Cappelletti C, Galbardi B, Bruttini M, Salerno F, Canioni E, Pasanisi M, et al.
FASEB J
. 2019 Mar;
33(6):7155-7167.
PMID: 30860873
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate-binding protein nuclear 1 gene and consequent mRNA processing impairment and myogenic...
9.
Cappelletti C, Salerno F, Canioni E, Mora M, Mantegazza R, Bernasconi P, et al.
Nucleus
. 2018 Jun;
9(1):398-409.
PMID: 29895224
Abbreviations: DMD, Duchenne muscular dystrophy; EDMD2, Emery-Dreifuss muscular dystrophy type 2; FSHD, facio-scapulo-humeral muscular dystrophy; LGMD1B, limb-girdle muscular dystrophy type 1B; LMNA-CMD, LMNA-related congenital muscular dystrophy; LMNA-RM, LMNA-related myopathies; sIBM,...
10.
Colleoni L, Galbardi B, Barzago C, Bonanno S, Franzi S, Frangiamore R, et al.
Pharmacogenet Genomics
. 2016 Dec;
27(2):51-56.
PMID: 27922550
Objective: We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to...