Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

by Elena Sommariva, Matteo Vatta, Yutao Xi, Simone Sala, Tomohiko Ai, Jie Cheng, Carlo Pappone, Maurizio Ferrari, Sara Benedetti
Published 2012-09-01

Delivery in asymptomatic Italian woman with SARS-CoV-2 infection.

by Giuseppe Vittorio De Socio, Lisa Malincarne, Saverio Arena, Stefania Troiani, Sara Benedetti, Barbara Camilloni, Giorgio Epicoco, Antonella Mencacci, Daniela Francisci
Published 2020-04-01

Novel <i>SCN5A</i> p.V1429M Variant Segregation in a Family with Brugada Syndrome

by Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Valeria Borrelli, Luigi Giannelli, Gabriele Vicedomini, Andrea Ghiroldi, Luigi Anastasia, Emanuela T. Locati, Sara Benedetti, Chiara Di Resta, Giorgio Casari, Carlo Pappone
Published 2020-08-01

Novel <i>SCN5A</i> p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

by Emanuele Micaglio, Michelle M. Monasky, Nicoletta Resta, Rosanna Bagnulo, Giuseppe Ciconte, Luigi Gianelli, Emanuela T. Locati, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Sara Benedetti, Chiara Di Resta, Maurizio Ferrari, Carlo Pappone
Published 2019-10-01

Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells

by Mattia Francesco Maria Gerli, Louise Anne Moyle, Sara Benedetti, Giulia Ferrari, Ekin Ucuncu, Martina Ragazzi, Chrystalla Constantinou, Irene Louca, Hiroshi Sakai, Pierpaolo Ala, Paolo De Coppi, Shahragim Tajbakhsh, Giulio Cossu, Francesco Saverio Tedesco
Published 2019-03-01

Novel <i>SCN5A</i> p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

by 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
Published 2021-04-01

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

by Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Sara Benedetti, Chiara Di Resta, Chiara Di Resta, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Marco Piccoli, Luigi Anastasia, Luigi Anastasia, Vincenzo Santinelli, Maurizio Ferrari, Maurizio Ferrari, Maurizio Ferrari, Carlo Pappone
Published 2019-05-01

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

by Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, Slawomir Wantuch, Daniel Stuckey, Derek Burke, Helen Prunty, Rahul Phadke, Darren Chambers, Armando Partida-Gaytan, Diego Leon-Rico, Neelam Panchal, Kathryn Whitmore, Miguel Calero, Sara Benedetti, Giorgia Santilli, Adrian J. Thrasher, H. Bobby Gaspar
Published 2020-09-01

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

by 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, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Maurizio Ferrari, Maurizio Ferrari, Vincenzo Santinelli, Carlo Pappone
Published 2019-06-01

Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next‐generation human artificial chromosomes for Duchenne muscular dystrophy

by Sara Benedetti, Narumi Uno, Hidetoshi Hoshiya, Martina Ragazzi, Giulia Ferrari, Yasuhiro Kazuki, Louise Anne Moyle, Rossana Tonlorenzi, Angelo Lombardo, Soraya Chaouch, Vincent Mouly, Marc Moore, Linda Popplewell, Kanako Kazuki, Motonobu Katoh, Luigi Naldini, George Dickson, Graziella Messina, Mitsuo Oshimura, Giulio Cossu, Francesco Saverio Tedesco
Published 2018-02-01

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

by 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, Sara D’Imperio, Chiara Di Resta, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Maurizio Ferrari, Maurizio Ferrari, Vincenzo Santinelli, Luigi Anastasia, Luigi Anastasia, Carlo Pappone
Published 2019-02-01