Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

by Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo
Published 2013-01-01

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

by Marco Crocco, Angela Calvi, Paolo Gandullia, Federica Malerba, Anthea Mariani, Sonia Di Profio, Barbara Tappino, Stefano Bonassi
Published 2021-02-01

Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

by Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri
Published 2014-07-01

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

by Irene Motta, Dario Consonni, Marina Stroppiano, Christian Benedetto, Elena Cassinerio, Barbara Tappino, Paola Ranalli, Lorenza Borin, Luca Facchini, Andrea Patriarca, Wilma Barcellini, Federica Lanza, Mirella Filocamo, Maria Domenica Cappellini, Splenomegaly Gaucher group
Published 2021-01-01

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

by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
Published 2018-11-01