Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

av Lorenzon, Alessandra, Beffagna, Giorgia, Bauce, Barbara, De Bortoli, Marzia, Li Mura, Ilena E.A., Calore, Martina, Dazzo, Emanuela, Basso, Cristina, Nava, Andrea, Thiene, Gaetano, Rampazzo, Alessandra
Publicerad 2013

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

av De Bortoli, Marzia, Beffagna, Giorgia, Bauce, Barbara, Lorenzon, Alessandra, Smaniotto, Gessica, Rigato, Ilaria, Calore, Martina, Li Mura, Ilena E A, Basso, Cristina, Thiene, Gaetano, Lanfranchi, Gerolamo, Danieli, Gian Antonio, Nava, Andrea, Rampazzo, Alessandra
Publicerad 2010

Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy

av 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
I publikationen Eur J Hum Genet (2017)

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

av 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
Publicerad 2007

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

av Perrot, Andreas, Tomasov, Pavol, Villard, Eric, Faludi, Reka, Melacini, Paola, Lossie, Janine, Lohmann, Nadine, Richard, Pascale, De Bortoli, Marzia, Angelini, Annalisa, Varga-Szemes, Akos, Sperling, Silke R., Simor, Tamás, Veselka, Josef, Özcelik, Cemil, Charron, Philippe
I publikationen Arch Med Sci (2016)

Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations

av Bauce, Barbara, Rampazzo, Alessandra, Basso, Cristina, Mazzotti, Elisa, Rigato, Ilaria, Steriotis, Alexandros, Beffagna, Giorgia, Lorenzon, Alessandra, De Bortoli, Marzia, Pilichou, Kalliopi, Marra, Martina Perazzolo, Corbetti, Francesco, Daliento, Luciano, Iliceto, Sabino, Corrado, Domenico, Thiene, Gaetano, Nava, Andrea
Publicerad 2011

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

av Greco, Eliana, Aita, Ada, Galozzi, Paola, Gava, Alessandra, Sfriso, Paolo, Negm, Ola H, Tighe, Patrick, Caso, Francesco, Navaglia, Filippo, Dazzo, Emanuela, De Bortoli, Marzia, Rampazzo, Alessandra, Obici, Laura, Donadei, Simona, Merlini, Giampaolo, Plebani, Mario, Todd, Ian, Basso, Daniela, Punzi, Leonardo
I publikationen Arthritis Res Ther (2015)

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

av 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, Luisa Mostacciuolo, Maria, Corrado, Domenico, Basso, Cristina, Daliento, Luciano, Thiene, Gaetano, Rampazzo, Alessandra
Publicerad 2013

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

av Teumer, Alexander, Trenkwalder, Teresa, Kessler, Thorsten, Jamshidi, Yalda, van den Berg, Marten E., Kaess, Bernhard, Nelson, Christopher P., Bastiaenen, Rachel, De Bortoli, Marzia, Rossini, Alessandra, Deisenhofer, Isabel, Stark, Klaus, Assa, Solmaz, Braund, Peter S., Cabrera, Claudia, Dominiczak, Anna F., Gögele, Martin, Hall, Leanne M., Ikram, M. Arfan, Kavousi, Maryam, Lackner, Karl J., Müller, Christian, Münzel, Thomas, Nauck, Matthias, Padmanabhan, Sandosh, Pfeiffer, Norbert, Spector, Tim D., Uitterlinden, Andre G., Verweij, Niek, Völker, Uwe, Warren, Helen R., Zafar, Mobeen, Felix, Stephan B., Kors, Jan A., Snieder, Harold, Munroe, Patricia B., Pattaro, Cristian, Fuchsberger, Christian, Schmidt, Georg, Nolte, Ilja M., Schunkert, Heribert, Pramstaller, Peter P., Wild, Philipp S., van der Harst, Pim, Stricker, Bruno H., Schnabel, Renate B., Samani, Nilesh J., Hengstenberg, Christian, Dörr, Marcus, Behr, Elijah R., Reinhard, Wibke
I publikationen JCI Insight (2019)