Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Valerio Mecarocci"'
Autor:
Emanuele Micaglio, Michelle M. Monasky, Giuseppe Ciconte, Gabriele Vicedomini, Manuel Conti, Valerio Mecarocci, Luigi Giannelli, Federica Giordano, Alberto Pollina, Massimo Saviano, Paolo R. Pozzi, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Vincenzo Santinelli, Carlo Pappone
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular
Externí odkaz:
https://doaj.org/article/730a0eb7e9ed4593a39865012404112b
Autor:
Emanuele Micaglio, Michelle M. Monasky, Giuseppe Ciconte, Gabriele Vicedomini, Manuel Conti, Valerio Mecarocci, Luigi Giannelli, Federica Giordano, Alberto Pollina, Massimo Saviano, Simonetta Crisà, Valeria Borrelli, Andrea Ghiroldi, Sara D’Imperio, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Vincenzo Santinelli, Luigi Anastasia, Carlo Pappone
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
In this case series, we report for the first time a family in which the inherited nonsense mutation [c. 3946C > T (p.Arg1316*)] in the SCN5A gene segregates in association with Brugada syndrome (BrS). Moreover, we also report, for the first time, the
Externí odkaz:
https://doaj.org/article/cc4522e886ff4e74a1f3698e9ba7eecd
Autor:
Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Ilaria Rivolta, Valeria Borrelli, Andrea Ghiroldi, Sara D’Imperio, Anna Binda, Dario Melgari, Sara Benedetti, Predrag Mitrovic, Luigi Anastasia, Valerio Mecarocci, Žarko Ćalović, Giorgio Casari, Carlo Pappone
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4700 (2021)
Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history
Externí odkaz:
https://doaj.org/article/3f8eba33a24d462fa55d0aead194fe04
Autor:
Emanuele Micaglio, Michelle M. Monasky, Andrea Bernardini, Valerio Mecarocci, Valeria Borrelli, Giuseppe Ciconte, Emanuela T. Locati, Marco Piccoli, Andrea Ghiroldi, Luigi Anastasia, Carlo Pappone
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 2, p 670 (2021)
Dilated cardiomyopathy (DCM) is the leading indication for heart transplantation. TTN gene truncating mutations account for about 25% of familial DCM cases and for 18% of sporadic DCM cases. The clinical relevance of specific variants in TTN has been
Externí odkaz:
https://doaj.org/article/39fef2283aad405980e04d6d796921b6
Autor:
Giuseppe Ciconte, Antonio Boccellino, Gabriele Negro, Roberto Rondine, vincenzo maiolo, marco ballarotto, Antonio Napolano, valerio mecarocci, Luigi Giannelli, andrea cappabianca, Gabriele Vicedomini, Luigi Anastasia, Zarko Calovic, Vincenzo Santinelli, Carlo Pappone
Publikováno v:
Heart Rhythm. 20:S70-S71
Autor:
Carlo Pappone, Antonio Boccellino, Gabriele Negro, Roberto Rondine, Luigi Giannelli, valerio mecarocci, Zarko Calovic, Andrea Cappabianca, Vincenzo Maiolo, Antonio Napolano, Ludovico Sabatelli, marco ballarotto, Gabriele Vicedomini, Vincenzo Santinelli, Giuseppe Ciconte
Publikováno v:
Heart Rhythm. 20:S528
Autor:
Antonio Boccellino, Giuseppe Ciconte, Zarko Calovic, Gabriele Negro, Luigi Giannelli, Antonio Napolano, Roberto Rondine, valerio mecarocci, Andrea Cappabianca, Gabriele Vicedomini, Carlo Pappone
Publikováno v:
Heart Rhythm. 20:S108
Autor:
Enrico Petretto, Andrea Bernardini, Gabriele Vicedomini, Andrea Ghiroldi, Žarko Ćalović, Chiara Di Resta, Carlo de Innocentiis, Francesca Santini, Giuseppe Ciconte, Michelle M. Monasky, Valerio Mecarocci, Gabriele Negro, Giorgio Casari, Roberto Rondine, Luigi Giannelli, Beniamino C Mazza, Luigi Anastasia, Ilaria Rivolta, Sara Benedetti, Valeria Borrelli, Carlo Pappone, Vincenzo Santinelli, Emanuele Micaglio, Sara D'Imperio, Emanuela T Locati
Publikováno v:
European Heart Journal
Aims Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, th
Autor:
Francesco Sturla, Emanuele Micaglio, Valerio Mecarocci, Silvia Pica, Lara Tondi, Carlo Pappone, Luigi Anastasia, Antonia Camporeale, Francesco Manguso, Giuseppe Ciconte, Gabriele Vicedomini, Massimo Lombardi, Vincenzo Santinelli
Publikováno v:
Circulation. Arrhythmia and electrophysiology. 14(11)
Background: Brugada syndrome (BrS) is considered a purely electrical disease with variable electrical substrates. Variable rates of mechanical abnormalities have been also reported. Whether exists a link between electrical and mechanical abnormalitie
Autor:
Peter M. Van Dam, Emanuela T. Locati, Giuseppe Ciconte, Valeria Borrelli, Vincenzo Santinelli, Gabriele Vicedomini, Michelle M. Monasky, Emanuele Micaglio, Luigi Giannelli, Valerio Mecarocci, Zarko Calovic, Carlo Pappone
Publikováno v:
Journal of Electrocardiology. 69:80-81