Sfoglia per Autore
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.
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.
Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment
2020 Dʹavanzo, F.; Rigon, L.; Zanetti, A.; Tomanin, R.
Targeting brain disease in MPSII: Preclinical evaluation of IDS-loaded PLGA nanoparticles
2019 Rigon, L.; Salvalaio, M.; Pederzoli, F.; Legnini, E.; Duskey, J. T.; D'Avanzo, F.; De Filippis, C.; Ruozi, B.; Marin, O.; Vandelli, M. A.; Ottonelli, I.; Scarpa, M.; Tosi, G.; Tomanin, R.
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.
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
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
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
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II
2017 Costa, Roberto; Urbani, Andrea; Salvalaio, Marika; Bellesso, Stefania; Cieri, Domenico; Zancan, Ilaria; Filocamo, Mirella; Bonaldo, Paolo; Szabo', Ildiko'; Tomanin, Rosella; Moro, Enrico
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
2016 Salvalaio, M; Rigon, Laura; Belletti, D; D'Avanzo, Francesca; Pederzoli, F; Ruozi, B; Marin, Oriano; Vandelli, Ma; Forni, F; Scarpa, Maurizio; Tomanin, Rosella; Tosi, G.
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
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
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
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
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
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved
2013 Fusar Poli, E; Zalfa, C; D'Avanzo, Francesca; Tomanin, Rosella; Carlessi, L; Bossi, M; Nodari, L. Rota; Binda, E; Marmiroli, P; Scarpa, M; Delia, D; Vescovi, A. L; De Filippis, L.
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
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
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II.
2010 Friso, Adelaide; Tomanin, Rosella; Salvalaio, Marika; Scarpa, Maurizio
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