Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

por Filocamo, Mirella, Tomanin, Rosella, Bertola, Francesca, Morrone, Amelia
Publicado 2018

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

por D’Avanzo, Francesca, Rigon, Laura, Zanetti, Alessandra, Tomanin, Rosella
Publicado 2020

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases

por Scarpa, Maurizio, Ceci, Adriana, Tomanin, Rosella, Mincarone, Pierpaolo, Begley, David
Publicado 2011

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease

por D’Avanzo, Francesca, Zanetti, Alessandra, De Filippis, Concetta, Tomanin, Rosella
Publicado 2021

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery

por Rigon, Laura, De Filippis, Concetta, Napoli, Barbara, Tomanin, Rosella, Orso, Genny
Publicado 2021

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes

por Badenetti, Lorenzo, Manzoli, Rosa, Trevisan, Marta, D’Avanzo, Francesca, Tomanin, Rosella, Moro, Enrico
Publicado 2023

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

por D’Avanzo, Francesca, Zanetti, Alessandra, Dardis, Andrea, Scarpa, Maurizio, Volpi, Nicola, Gatto, Francesco, Tomanin, Rosella
Publicado 2023

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes

por De Filippis, Concetta, Napoli, Barbara, Rigon, Laura, Guarato, Giulia, Bauer, Reinhard, Tomanin, Rosella, Orso, Genny
Publicado 2021

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

por Salvalaio, Marika, D’Avanzo, Francesca, Rigon, Laura, Zanetti, Alessandra, D’Angelo, Michela, Valle, Giorgio, Scarpa, Maurizio, Tomanin, Rosella
Publicado 2017

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

por Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Publicado 2018

Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy

por Maccari, Francesca, Rigon, Laura, Mantovani, Veronica, Galeotti, Fabio, Salvalaio, Marika, D’Avanzo, Francesca, Zanetti, Alessandra, Capitani, Federica, Gabrielli, Orazio, Tomanin, Rosella, Volpi, Nicola
Publicado 2022

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

por Mazzoccoli, Gianluigi, Tomanin, Rosella, Mazza, Tommaso, D’Avanzo, Francesca, Salvalaio, Marika, Rigon, Laura, Zanetti, Alessandra, Pazienza, Valerio, Francavilla, Massimo, Giuliani, Francesco, Vinciguerra, Manlio, Scarpa, Maurizio
Publicado 2013

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease

por Zalfa, Cristina, Verpelli, Chiara, D'Avanzo, Francesca, Tomanin, Rosella, Vicidomini, Cinzia, Cajola, Laura, Manara, Renzo, Sala, Carlo, Scarpa, Maurizio, Vescovi, Angelo Luigi, De Filippis, Lidia
Publicado 2016

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

por Zanetti, Alessandra, D’Avanzo, Francesca, Rigon, Laura, Rampazzo, Angelica, Concolino, Daniela, Barone, Rita, Volpi, Nicola, Santoro, Lucia, Lualdi, Susanna, Bertola, Francesca, Scarpa, Maurizio, Tomanin, Rosella
Publicado 2019

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

por Salvalaio, Marika, Rigon, Laura, Belletti, Daniela, D’Avanzo, Francesca, Pederzoli, Francesca, Ruozi, Barbara, Marin, Oriano, Vandelli, Maria Angela, Forni, Flavio, Scarpa, Maurizio, Tomanin, Rosella, Tosi, Giovanni
Publicado 2016

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study

por Sestito, Simona, Rinninella, Giada, Rampazzo, Angelica, D’Avanzo, Francesca, Zampini, Lucia, Santoro, Lucia, Gabrielli, Orazio, Fiumara, Agata, Barone, Rita, Volpi, Nicola, Scarpa, Maurizio, Tomanin, Rosella, Concolino, Daniela
Publicado 2022

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

por Tomanin, Rosella, Zanetti, Alessandra, D’Avanzo, Francesca, Rampazzo, Angelica, Gasparotto, Nicoletta, Parini, Rossella, Pascarella, Antonia, Concolino, Daniela, Procopio, Elena, Fiumara, Agata, Borgo, Andrea, Frigo, Anna Chiara, Scarpa, Maurizio
Publicado 2014

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization

por 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
Publicado 2017

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles

por 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
Publicado 2019

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

por Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Publicado 2021