High Somatic Mutation and Neoantigen Burden Do Not Correlate with Decreased Progression-Free Survival in HCC Patients not Undergoing Immunotherapy

por Mauriello, Angela, Zeuli, Roberta, Cavalluzzo, Beatrice, Petrizzo, Annacarmen, Tornesello, Maria Lina, Buonaguro, Franco M., Ceccarelli, Michele, Tagliamonte, Maria, Buonaguro, Luigi
Publicado 2019

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

por Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Publicado 2020

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

por Torella, Annalaura, Ricca, Ivana, Piluso, Giulio, Galatolo, Daniele, De Michele, Giuseppe, Zanobio, Mariateresa, Trovato, Rosanna, De Michele, Giovanna, Zeuli, Roberta, Pane, Chiara, Cocozza, Sirio, Saccà, Francesco, Santorelli, Filippo M., Nigro, Vincenzo, Filla, Alessandro
Publicado 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

por Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro
Publicado 2022

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

por Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D’Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A., Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, Ferlini, Alessandra
Publicado 2023