Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

por Regis, Stefano, Corsolini, Fabio, Grossi, Serena, Tappino, Barbara, Cooper, David N., Filocamo, Mirella
Publicado 2013

Assessing Health-Related Quality of Life in Children with Coeliac Disease: The Italian Version of CDDUX

por Crocco, Marco, Calvi, Angela, Gandullia, Paolo, Malerba, Federica, Mariani, Anthea, Di Profio, Sonia, Tappino, Barbara, Bonassi, Stefano
Publicado 2021

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia

por Aloi, Concetta, Salina, Alessandro, Caroli, Francesco, Bocciardi, Renata, Tappino, Barbara, Bassi, Marta, Minuto, Nicola, d’Annunzio, Giuseppe, Maghnie, Mohamad
Publicado 2023

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

por Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Publicado 2010

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

por Motta, Irene, Consonni, Dario, Stroppiano, Marina, Benedetto, Christian, Cassinerio, Elena, Tappino, Barbara, Ranalli, Paola, Borin, Lorenza, Facchini, Luca, Patriarca, Andrea, Barcellini, Wilma, Lanza, Federica, Filocamo, Mirella, Cappellini, Maria Domenica
Publicado 2021

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

por Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, Parini, Rossella
Publicado 2018

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

por Pession, Andrea, Di Rocco, Maja, Venturelli, Francesco, Tappino, Barbara, Morello, William, Santoro, Nicola, Giordano, Paola, Filippini, Beatrice, Rinieri, Simona, Russo, Giovanna, Girardi, Katia, Ruggiero, Antonio, Galea, Eulalia, Antonucci, Roberto, Tovaglieri, Nicola, Porta, Fulvio, Tartaglione, Immacolata, Giona, Fiorina, Fagioli, Franca, Burlina, Alberto
Publicado 2023

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

por Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco, De Marco, Patrizia
Publicado 2023