Ilena Egle Astrid Li Mura

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 · 198 citations

Medicine, Cardiology, Genetics +13

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

Alessandra Lorenzon, Giorgia Beffagna, Barbara Bauce et al. · The American Journal of Cardiology · 2012 · 66 citations · Full text

Medicine, Cardiology, Genetics +15

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

Ilena Egle Astrid Li Mura, Barbara Bauce, Andrea Nava et al. · European Journal of Human Genetics · 2013 · 41 citations · Full text

Medicine, Cardiology, Genetics +13

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

Marzia De Bortoli, Giorgia Beffagna, Barbara Bauce et al. · European Journal of Human Genetics · 2010 · 27 citations · Full text

Medicine, Cardiology, Genetics +9

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

Giulia Poloni, Martina Calore, Ilaria Rigato et al. · Heart Rhythm · 2018 · 22 citations

Medicine, Genetics, Molecular Genetics +16