Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the <i>NCOA3</i> Gene

by Paola Tesolin, Anna Morgan, Michela Notarangelo, Rocco Pio Ortore, Maria Pina Concas, Angelantonio Notarangelo, Giorgia Girotto
Published 2021-07-01

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation

by Daniele Pollini, Rosa Loffredo, Marina Cardano, Luciano Conti, Serena Lattante, Angelantonio Notarangelo, Mario Sabatelli, Alessandro Provenzani
Published 2018-12-01

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

by Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De De Meco, Lucia Micale, Paolo Graziano, Marco Castori
Published 2020-07-01