Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

por Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Publicado 2015

A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy

por Vita, Gian Luca, Sframeli, Maria, Licata, Norma, Bitto, Alessandra, Romeo, Sara, Frisone, Francesca, Ciranni, Annamaria, Pallio, Giovanni, Mannino, Federica, Aguennouz, M’Hammed, Rodolico, Carmelo, Squadrito, Francesco, Toscano, Antonio, Messina, Sonia, Vita, Giuseppe
Publicado 2021

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

por D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco
Publicado 2015