Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy von Xu, Tianhong, PhD, Yang, Zhao, MD, PhD, Vatta, Matteo, PhD, Rampazzo, Alessandra, MD, PhD, Beffagna, Giorgia, PhD, Pillichou, Kalliopi, PhD, Scherer, Steven E., PhD, Saffitz, Jeffrey, MD, PhD, Kravitz, Joshua, BS, Zareba, Wojciech, MD, Danieli, Gian Antonio, PhD, Lorenzon, Alessandra, PhD, Nava, Andrea, MD, Bauce, Barbara, MD, PhD, Thiene, Gaetano, MD, Basso, Cristina, MD, PhD, Calkins, Hugh, MD, Gear, Kathy, RN, Marcus, Frank, MD, Towbin, Jeffrey A., MD

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Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy von Rigato, Ilaria, Bauce, Barbara, Rampazzo, Alessandra, Zorzi, Alessandro, Pilichou, Kalliopi, Mazzotti, Elisa, Migliore, Federico, Marra, Martina Perazzolo, Lorenzon, Alessandra, De Bortoli, Marzia, Calore, Martina, Nava, Andrea, Daliento, Luciano, Gregori, Dario, Iliceto, Sabino, Thiene, Gaetano, Basso, Cristina, Corrado, Domenico

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Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy von Lorenzon, Alessandra, PhD, Beffagna, Giorgia, PhD, Bauce, Barbara, MD, PhD, De Bortoli, Marzia, PhD, Li Mura, Ilena E.A., PhD, Calore, Martina, PhD, Dazzo, Emanuela, PhD, Basso, Cristina, MD, PhD, Nava, Andrea, MD, Thiene, Gaetano, MD, Rampazzo, Alessandra, PhD

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Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia von Bauce, Barbara, MD, PhD, Nava, Andrea, MD, Beffagna, Giorgia, BSc, PhD, Basso, Cristina, MD, PhD, Lorenzon, Alessandra, BSc, PhD, Smaniotto, Gessica, BSc, PhD, De Bortoli, Marzia, BSc, PhD, Rigato, Ilaria, MD, PhD, Mazzotti, Elisa, MD, PhD, Steriotis, Alexandros, MD, Marra, Martina Perazzolo, MD, PhD, Towbin, Jeffry A., MD, PhD, Thiene, Gaetano, MD, Danieli, Gian Antonio, BSc, PhD, Rampazzo, Alessandra, BSc, PhD

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Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations von Bauce, Barbara, MD, PhD, Rampazzo, Alessandra, PhD, Basso, Cristina, MD, PhD, Mazzotti, Elisa, MD, PhD, Rigato, Ilaria, MD, PhD, Steriotis, Alexandros, MD, PhD, Beffagna, Giorgia, PhD, Lorenzon, Alessandra, PhD, De Bortoli, Marzia, PhD, Pilichou, Kalliopi, PhD, Marra, Martina Perazzolo, MD, PhD, Corbetti, Francesco, MD, Daliento, Luciano, MD, Iliceto, Sabino, MD, Corrado, Domenico, MD, PhD, Thiene, Gaetano, MD, Nava, Andrea, MD

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Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy von Sacchetto, Claudia, Mohseni, Zenab, Colpaert, Robin M W, Vitiello, Libero, De Bortoli, Marzia, Vonhögen, Indira G C, Xiao, Ke, Poloni, Giulia, Lorenzon, Alessandra, Romualdi, Chiara, Bariani, Riccardo, Mazzotti, Elisa, Daliento, Luciano, Bauce, Barbara, Corrado, Domenico, Thum, Thomas, Rampazzo, Alessandra, de Windt, Leon J, Calore, Martina

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Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy von Lorenzon, Alessandra, PhD, Pilichou, Kalliopi, PhD, Rigato, Ilaria, PhD, Vazza, Giovanni, PhD, De Bortoli, Marzia, PhD, Calore, Martina, PhD, Occhi, Gianluca, PhD, Carturan, Elisa, PhD, Lazzarini, Elisabetta, PhD, Cason, Marco, BSc, Mazzotti, Elisa, PhD, Poloni, Giulia, BSc, Mostacciuolo, Maria Luisa, BSc, Daliento, Luciano, MD, Thiene, Gaetano, MD, Corrado, Domenico, PhD, Basso, Cristina, PhD, Bauce, Barbara, PhD, Rampazzo, Alessandra, PhD

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Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro von Beffagna, Giorgia, De Bortoli, Marzia, Nava, Andrea, Salamon, Michela, Lorenzon, Alessandra, Zaccolo, Manuela, Mancuso, Luisa, Sigalotti, Luca, Bauce, Barbara, Occhi, Gianluca, Basso, Cristina, Lanfranchi, Gerolamo, Towbin, Jeffrey A, Thiene, Gaetano, Danieli, Gian Antonio, Rampazzo, Alessandra

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Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy von Lorenzon, Alessandra, Calore, Martina, Poloni, Giulia, De Windt, Leon J, Braghetta, Paola, Rampazzo, Alessandra

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Arrhythmogenic cardiomyopathy: a disease of intercalated discs von Calore, Martina, Lorenzon, Alessandra, De Bortoli, Marzia, Poloni, Giulia, Rampazzo, Alessandra

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy von PILICHOU, Kalliopi, NAVA, Andrea, THIENE, Gaetano, DANIELI, Gian Antonio, RAMPAZZO, Alessandra, BASSO, Cristina, BEFFAGNA, Giorgia, BAUCE, Barbara, LORENZON, Alessandra, FRIGO, Gianfranco, VETTORI, Andrea, VALENTE, Marialuisa, TOWBIN, Jeffrey

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A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation von Calore, Martina, Lorenzon, Alessandra, Vitiello, Libero, Poloni, Giulia, Khan, Mohsin A F, Beffagna, Giorgia, Dazzo, Emanuela, Sacchetto, Claudia, Polishchuk, Roman, Sabatelli, Patrizia, Doliana, Roberto, Carnevale, Daniela, Lembo, Giuseppe, Bonaldo, Paolo, De Windt, Leon, Braghetta, Paola, Rampazzo, Alessandra

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A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life von Calore, Chiara, De Bortoli, Marzia, Romualdi, Chiara, Lorenzon, Alessandra, Angelini, Annalisa, Basso, Cristina, Thiene, Gaetano, Iliceto, Sabino, Rampazzo, Alessandra, Melacini, Paola

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Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients von Pilichou, Kalliopi, Lazzarini, Elisabetta, Rigato, Ilaria, Celeghin, Rudy, De Bortoli, Marzia, Perazzolo Marra, Marina, Cason, Marco, Jongbloed, Jan, Calore, Martina, Rizzo, Stefania, Regazzo, Daniela, Poloni, Giulia, Iliceto, Sabino, Daliento, Luciano, Delise, Pietro, Corrado, Domenico, Van Tintelen, J Peter, Thiene, Gaetano, Rampazzo, Alessandra, Basso, Cristina, Bauce, Barbara, Lorenzon, Alessandra, Occhi, Gianluca

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Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy von De Bortoli, Marzia, Calore, Chiara, Lorenzon, Alessandra, Calore, Martina, Poloni, Giulia, Mazzotti, Elisa, Rigato, Ilaria, Marra, Martina Perazzolo, Melacini, Paola, Iliceto, Sabino, Thiene, Gaetano, Basso, Cristina, Daliento, Luciano, Corrado, Domenico, Rampazzo, Alessandra, Bauce, Barbara

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A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy von Poloni, Giulia, Calore, Martina, Rigato, Ilaria, Marras, Elena, Minervini, Giovanni, Mazzotti, Elisa, Lorenzon, Alessandra, Li Mura, Ilena Egle Astrid, Telatin, Andrea, Zara, Ivano, Simionati, Barbara, Perazzolo Marra, Martina, Ponti, Jessica, Occhi, Gianluca, Vitiello, Libero, Daliento, Luciano, Thiene, Gaetano, Basso, Cristina, Corrado, Domenico, Tosatto, Silvio, Bauce, Barbara, Rampazzo, Alessandra, De Bortoli, Marzia

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Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy : an electron microscopy investigation on endomyocardial biopsies von BASSO, Cristina, CZARNOWSKA, Elzbieta, CORRADO, Domenico, DALIENTO, Luciano, DANIELI, Gian Antonio, VALENTE, Marialuisa, NAVA, Andrea, THIENE, Gaetano, RAMPAZZO, Alessandra, DELLA BARBERA, Mila, BAUCE, Barbara, BEFFAGNA, Giorgia, WLODARSKA, Elzbieta K, PILICHOU, Kalliopi, RAMONDO, Angelo, LORENZON, Alessandra, WOZNIEK, Olgierd

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Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy von Li Mura, Ilena Egle Astrid, Bauce, Barbara, Nava, Andrea, Fanciulli, Manuela, Vazza, Giovanni, Mazzotti, Elisa, Rigato, Ilaria, De Bortoli, Marzia, Beffagna, Giorgia, Lorenzon, Alessandra, Calore, Martina, Dazzo, Emanuela, Nobile, Carlo, Mostacciuolo, Maria Luisa, Corrado, Domenico, Basso, Cristina, Daliento, Luciano, Thiene, Gaetano, Rampazzo, Alessandra

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Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy von De Bortoli, Marzia, Postma, Alex V, Poloni, Giulia, Calore, Martina, Minervini, Giovanni, Mazzotti, Elisa, Rigato, Ilaria, Ebert, Micaela, Lorenzon, Alessandra, Vazza, Giovanni, Cipriani, Alberto, Bariani, Riccardo, Perazzolo Marra, Martina, Husser, Daniela, Thiene, Gaetano, Daliento, Luciano, Corrado, Domenico, Basso, Cristina, Tosatto, Silvio C E, Bauce, Barbara, van Tintelen, J Peter, Rampazzo, Alessandra

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Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy von van Hengel, Jolanda, Calore, Martina, Bauce, Barbara, Dazzo, Emanuela, Mazzotti, Elisa, De Bortoli, Marzia, Lorenzon, Alessandra, Li Mura, Ilena E A, Beffagna, Giorgia, Rigato, Ilaria, Vleeschouwers, Mara, Tyberghein, Koen, Hulpiau, Paco, van Hamme, Evelien, Zaglia, Tania, Corrado, Domenico, Basso, Cristina, Thiene, Gaetano, Daliento, Luciano, Nava, Andrea, van Roy, Frans, Rampazzo, Alessandra

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