Alice Margutti
Overview
Explore the profile of Alice Margutti including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
52
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0
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Recent Articles
1.
Selvatici R, Guida V, Maffei M, Irrera M, Margutti A, Bisceglia P, et al.
Genes (Basel)
. 2025 Jan;
16(1.
PMID: 39858575
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit. Furthermore,...
2.
Balla C, Margutti A, De Carolis B, Canovi L, Di Domenico A, Vivaldi I, et al.
Heart Rhythm
. 2024 Mar;
21(8):1363-1369.
PMID: 38467355
Background: Cardiac conduction disorder (CCD) in patients <50 years old is a rare and mostly unknown condition. Objective: We aimed to assess clinical characteristics and genetic background of patients <50...
3.
Tonelli L, Balla C, Farne M, Margutti A, Maniscalchi E, De Feo G, et al.
J Cardiovasc Med (Hagerstown)
. 2023 Nov;
24(12):864-870.
PMID: 37942788
Aims: Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and is associated with a...
4.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, et al.
Neurol Genet
. 2020 Dec;
7(1):e536.
PMID: 33376799
Objective: Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin () gene mutations, either for disease prevention or...
5.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano M, et al.
Front Genet
. 2020 Mar;
11:131.
PMID: 32194622
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin () gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the...