ZANETTI, ALESSANDRA
ZANETTI, ALESSANDRA
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
2014 Zanetti, Alessandra; Tomanin, Rosella; Rampazzo, Angelica; Rigon, Chiara; Gasparotto, Nicoletta; Cassina, Matteo; Clementi, Maurizio; Scarpa, Maurizio
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model
2017 Salvalaio, Marika; D’Avanzo, Francesca; Rigon, Laura; Zanetti, Alessandra; D’Angelo, Michela; Valle, Giorgio; Scarpa, Maurizio; Tomanin, Rosella
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
2013 Mazzoccoli, G; Tomanin, Rosella; Mazza, T; D'Avanzo, Francesca; Salvalaio, Marika; Rigon, Laura; Zanetti, Alessandra; Pazienza, V; Francavilla, M; Giuliani, F; Vinciguerra, M; Scarpa, Maurizio
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years
2014 Tomanin, Rosella; Zanetti, Alessandra; D'Avanzo, Francesca; Rampazzo, Angelica; Gasparotto, Nicoletta; Rossella, Parini; Antonia, Pascarella; Daniela, Concolino; Elena, Procopio; Agata, Fiumara; Borgo, Andrea; Frigo, ANNA CHIARA; Scarpa, Maurizio
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.
2012 Tomanin, Rosella; Zanetti, Alessandra; Zaccariotto, E; D'Avanzo, Francesca; Bellettato, Cm; Scarpa, Maurizio
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro genetransfer for the production and release of recombinant iduronate-2-sulfatase (IDS)
2008 Friso, Adelaide; Tomanin, Rosella; Zanetti, Alessandra; C., Mennuni; F., Calvaruso; N., LA MONICA; Marin, Oriano; Zacchello, Franco; Scarpa, Maurizio
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy
2022 Maccari, F.; Rigon, L.; Mantovani, V.; Galeotti, F.; Salvalaio, M.; D'Avanzo, F.; Zanetti, A.; Capitani, F.; Gabrielli, O.; Tomanin, R.; Volpi, N.
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
2019 Zanetti, A.; D'Avanzo, F.; Rigon, L.; Rampazzo, A.; Concolino, D.; Barone, R.; Volpi, N.; Santoro, L.; Lualdi, S.; Bertola, F.; Scarpa, M.; Tomanin, R.
Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment
2020 Dʹavanzo, F.; Rigon, L.; Zanetti, A.; Tomanin, R.
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
2017 Bertoldi, Loris; Forcato, Claudio; Vitulo, Nicola; Birolo, Giovanni; DE PASCALE, Fabio; Feltrin, Erika; Schiavon, Riccardo; Anglani, Franca; Negrisolo, Susanna; Zanetti, Alessandra; D'Avanzo, Francesca; Tomanin, Rosella; Faulkner, Georgine; Vezzi, Alessandro; Valle, Giorgio
RNA-seq Transcriptome Profiling Of Primary Hunter Cells Following Treatment With Recombinant IDS As A First Step For Identification Of ERT Efficacy Markers
2011 Scarpa, Maurizio; Zanetti, Alessandra; D'Avanzo, Francesca; Salvalaio, Marika; Rigon, Laura; Albiero, A; Campanaro, Stefano; Valle, Giorgio; Tomanin, Rosella
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G > A (p.S384N) as to be a polymorphism
2009 Zanetti, Alessandra; Ferraresi, E; Picci, L; Filocamo, M; Parini, R; Rosano, C; Tomanin, R; Scarpa, Maurizio
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders
2020 Zanetti, A.; D'Avanzo, F.; Bertoldi, L.; Zampieri, G.; Feltrin, E.; De Pascale, F.; Rampazzo, A.; Forzan, M.; Valle, G.; Tomanin, R.