Marzia De Bortoli

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

Ilaria Rigato, Barbara Bauce, Alessandra Rampazzo et al. · Circulation Cardiovascular Genetics · 2013 · 250 citations · Full text

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

Jolanda van Hengel, Martina Calore, Barbara Bauce et al. · European Heart Journal · 2012 · 195 citations

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Barbara Bauce, Andrea Nava, Giorgia Beffagna et al. · Heart Rhythm · 2009 · 183 citations

Cardiac Muscle, Cardiomyopathy, Multiple Mutations +10

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

Barbara Bauce, Alessandra Rampazzo, Cristina Basso et al. · Heart Rhythm · 2011 · 86 citations · Full text

Cardiomyopathy, Heart Failure, Desmosomal Gene Mutations +9

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

Giorgia Beffagna, Marzia De Bortoli, Andrea Nava et al. · BMC Medical Genetics · 2007 · 79 citations · Full text