PAVAN, ELEONORA
PAVAN, ELEONORA
DMED - DIPARTIMENTO DI MEDICINA
Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test
2021-01-01 Zampieri, S.; Cattarossi, S.; Pavan, E.; Barbato, A.; Fiumara, A.; Peruzzo, P.; Scarpa, M.; Ciana, G.; Dardis, A.
Crispr/cas9 editing for gaucher disease modelling
2020-01-01 Pavan, E.; Ormazabal, M.; Peruzzo, P.; Vaena, E.; Rozenfeld, P.; Dardis, A.
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
2020-01-01 Ciana, G.; Dardis, A.; Pavan, E.; Da Riol, R. M.; Biasizzo, J.; Ferino, D.; Zanatta, M.; Boni, A.; Antonini, L.; Crichiutti, G.; Bembi, B.
In vitro modelling and characterization of cells involved in Gaucher Disease-related bone defects
2023-05-29 Pavan, Eleonora
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
2022-01-01 Dardis, A; Michelakakis, H; Rozenfeld, P; Fumic, K; Wagner, J; Pavan, E; Fuller, M; Revel-Vilk, S; Hughes, D; Cox, T; Aerts, J
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD)
2021-01-01 Dardis, A.; Pavan, E.; Fabris, M.; Da Riol, R. M.; Sechi, A.; Fiumara, A.; Santoro, L.; Ormazabal, M.; Milanic, R.; Zampieri, S.; Biasizzo, J.; Scarpa, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test | 1-gen-2021 | Zampieri, S.; Cattarossi, S.; Pavan, E.; Barbato, A.; Fiumara, A.; Peruzzo, P.; Scarpa, M.; Ciana, G.; Dardis, A. | |
| Crispr/cas9 editing for gaucher disease modelling | 1-gen-2020 | Pavan, E.; Ormazabal, M.; Peruzzo, P.; Vaena, E.; Rozenfeld, P.; Dardis, A. | |
| In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy | 1-gen-2020 | Ciana, G.; Dardis, A.; Pavan, E.; Da Riol, R. M.; Biasizzo, J.; Ferino, D.; Zanatta, M.; Boni, A.; Antonini, L.; Crichiutti, G.; Bembi, B. | |
| In vitro modelling and characterization of cells involved in Gaucher Disease-related bone defects | 29-mag-2023 | Pavan, Eleonora | |
| Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 | 1-gen-2022 | Dardis, A; Michelakakis, H; Rozenfeld, P; Fumic, K; Wagner, J; Pavan, E; Fuller, M; Revel-Vilk, S; Hughes, D; Cox, T; Aerts, J | |
| Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) | 1-gen-2021 | Dardis, A.; Pavan, E.; Fabris, M.; Da Riol, R. M.; Sechi, A.; Fiumara, A.; Santoro, L.; Ormazabal, M.; Milanic, R.; Zampieri, S.; Biasizzo, J.; Scarpa, M. |