Sfoglia per Autore
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model
2023 D'Avanzo, F.; Zanetti, A.; Dardis, A.; Scarpa, M.; Volpi, N.; Gatto, F.; Tomanin, R.
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.
Early axon guidance and synapse maturation defects in a zebrafish model of Mucopolysaccharidosis type II
2022 Manzoli, Rosa; Badenetti, Lorenzo; Tomanin, Rosella; Moro, Enrico
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.
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.
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.
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.
Targeting brain disease in MPSII: Preclinical evaluation of IDS-loaded PLGA nanoparticles
2019 Rigon, Laura; Salvalaio, Marika; Pederzoli, Francesca; Legnini, Elisa; Duskey, Jason Thomas; D'Avanzo, Francesca; De Filippis, Concetta; Ruozi, Barbara; Marin, Oriano; Vandelli, Maria Angela; Ottonelli, Ilaria; Scarpa, Maurizio; Tosi, Giovanni; Tomanin, Rosella
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
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.
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
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