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Page 1
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: margutti a. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788
Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population.
Balla C, Margutti A, De Carolis B, Canovi L, Di Domenico A, Vivaldi I, Vitali F, De Raffele M, Malagù M, Sassone B, Biffi M, Selvatici R, Ferlini A, Gualandi F, Bertini M. Balla C, et al. Among authors: margutti a. Heart Rhythm. 2024 Mar 10:S1547-5271(24)00243-1. doi: 10.1016/j.hrthm.2024.03.008. Online ahead of print. Heart Rhythm. 2024. PMID: 38467355 Free article.
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Tonelli L, Sanchini M, Margutti A, Buldrini B, Superti-Furga A, Ferlini A, Selvatici R, Bigoni S. Tonelli L, et al. Among authors: margutti a. Eur J Med Genet. 2024 Apr 27;69:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print. Eur J Med Genet. 2024. PMID: 38679371 Free article.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: margutti a. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: margutti a. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
SARS-CoV-2 in a Mink Farm in Italy: Case Description, Molecular and Serological Diagnosis by Comparing Different Tests.
Moreno A, Lelli D, Trogu T, Lavazza A, Barbieri I, Boniotti M, Pezzoni G, Salogni C, Giovannini S, Alborali G, Bellini S, Boldini M, Farioli M, Ruocco L, Bessi O, Maroni Ponti A, Di Bartolo I, De Sabato L, Vaccari G, Belli G, Margutti A, Giorgi M. Moreno A, et al. Among authors: margutti a. Viruses. 2022 Aug 8;14(8):1738. doi: 10.3390/v14081738. Viruses. 2022. PMID: 36016360 Free PMC article.
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR, Margutti AVB, Silva WA Jr, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS Jr. Campanholi DRR, et al. Among authors: margutti avb. Mol Genet Genomic Med. 2021 May;9(5):e1616. doi: 10.1002/mgg3.1616. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955723 Free PMC article.
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB, Silva WA Jr, Garcia DF, de Molfetta GA, Marques AA, Amorim T, Prazeres VMG, Boy da Silva RT, Miura IK, Seda Neto J, Santos ES, Santos MLSF, Lourenço CM, Tonon T, Sperb-Ludwig F, de Souza CFM, Schwartz IVD, Camelo JS Jr. Margutti AVB, et al. Orphanet J Rare Dis. 2020 Nov 1;15(1):309. doi: 10.1186/s13023-020-01590-7. Orphanet J Rare Dis. 2020. PMID: 33131499 Free PMC article.
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS Jr, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL. Scaini G, et al. Among authors: margutti avb. J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0188-x. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29740775
85 results