TOMANIN, ROSELLA
TOMANIN, ROSELLA
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
2014 Gucciardi, Antonina; Legnini, Elisa; Di Gangi, Im; Corbetta, C; Tomanin, Rosella; Scarpa, Maurizio; Giordano, Giuseppe
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
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes
2023 Badenetti, L.; Manzoli, R.; Trevisan, M.; D’Avanzo, F.; Tomanin, R.; Moro, E.
A rapid testing procedure for Fabry disease: alpha-galadosidase A assay in dried blood spots
2008 Gasparotto, Nicoletta; Tomanin, Rosella; Frigo, ANNA CHIARA; Pasquini, E; Donati, A; Niizawa, G; Blanco, M; Scarpa, Maurizio
Antiretroviral activity of furocoumarins plus UVA light detected by a replication-defective retrovirus
1994 Miolo, Giorgia; Tomanin, Rosella; DE ROSSI, Anita; Dall'Acqua, Francesco; Zacchello, Franco; Scarpa, Maurizio
BBB Crossing in Lysosomal Storage Disorders: A Nanoparticle-Based Approach
2014 Rigon, Laura; Salvalaio, Marika; Tosi, Giovanni; Belletti, Daniela; D'Avanzo, Francesca; Ruozi, Barbara; Vandelli, Maria Angela; Forni, Flavio; Scarpa, Maurizio; Tomanin, Rosella
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
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
2022 Sestito, S.; Rinninella, G.; Rampazzo, A.; D'Avanzo, F.; Zampini, L.; Santoro, L.; Gabrielli, O.; Fiumara, A.; Barone, R.; Volpi, N.; Scarpa, M.; Tomanin, R.; Concolino, D.
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
Corrigendum: FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII) [Human Molecular Genetics, 27, 13, (2018) (2262-2275)] DOI: 10.1093/hmg/ddy131
2018 Bellesso, S.; Salvalaio, M.; Lualdi, S.; Tognon, E.; Costa, R.; Braghetta, P.; Giraudo, C.; Stramare, R.; Rigon, L.; Filocamo, M.; Tomanin, R.; Moro, E.
Drosophila d-idua reduction mimics mucopolysaccharidosis type i disease-related phenotypes
2022 De Filippis, C.; Napoli, B.; Rigon, L.; Guarato, G.; Bauer, R.; Tomanin, R.; Orso, G.
Exploiting the potential of drosophila models in lysosomal storage disorders: Pathological mechanisms and drug discovery
2021 Rigon, L.; De Filippis, C.; Napoli, B.; Tomanin, R.; Orso, G.
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
2018 Bellesso, Stefania; Salvalaio, Marika; Lualdi, Susanaa; Tognon, Elisa; Costa, Roberto; Braghetta, Paola; Giraudo, Chiara; Stramare, Roberto; Rigon, Laura; Filocamo, Mirella; Tomanin, Rosella; Moro, Enrico
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
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II.
2010 Friso, Adelaide; Tomanin, Rosella; Salvalaio, Marika; 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.
High transduction efficiency of human amniotic fluid stem cells mediated by adenovirus vectors
2008 Grisafi, Davide; Piccoli, Martina; Pozzobon, Michela; Ditadi, Andrea; Zaramella, Patrizia; Chiandetti, Lino; Zanon, Giovanni Franco; Atala, Anthony; Zacchello, Franco; Scarpa, Maurizio; Coppi, Paolo De; Tomanin, Rosella
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.