One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography

Por Torella, Annalaura, Trimarco, Amelia, Del Vecchio Blanco, Francesca, Cuomo, Anna, Aurino, Stefania, Piluso, Giulio, Minetti, Carlo, Politano, Luisa, Nigro, Vincenzo
Publicado em 2010

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Por Tasca, Giorgio, Odgerel, Zagaa, Monforte, Mauro, Aurino, Stefania, Clarke, Nigel F., Waddell, Leigh B., Udd, Bjarne, Ricci, Enzo, Goldfarb, Lev G.
Publicado em 2012

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Por Cacciottolo, Mafalda, Numitone, Gelsomina, Aurino, Stefania, Caserta, Imma Rosaria, Fanin, Marina, Politano, Luisa, Minetti, Carlo, Ricci, Enzo, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Publicado em 2011

A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

Por Piluso, Giulio, D'Amico, Francesca, Saccone, Valentina, Bismuto, Ettore, Rotundo, Ida Luisa, Di Domenico, Marina, Aurino, Stefania, Schwartz, Charles E., Neri, Giovanni, Nigro, Vincenzo
Publicado em 2009

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

Por Lancioni, Alessio, Luisa Rotundo, Ida, Monique Kobayashi, Yvonne, D'Orsi, Luca, Aurino, Stefania, Nigro, Gerardo, Piluso, Giulio, Acampora, Dario, Cacciottolo, Mafalda, Campbell, Kevin P., Nigro, Vincenzo
Publicado em 2011

Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy

Por Roncarati, Roberta, Latronico, Michael VG, Musumeci, Beatrice, Aurino, Stefania, Torella, Annalaura, Bang, Marie-Louise, Jotti, Gloria Saccani, Puca, Annibale A, Volpe, Massimo, Nigro, Vincenzo, Autore, Camillo, Condorelli, Gianluigi
Publicado em 2011