PAVAN, ELEONORA

PAVAN, ELEONORA  

DMED - DIPARTIMENTO DI MEDICINA  

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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.
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions 1-gen-2024 Pavan, E.; Peruzzo, P.; Cattarossi, S.; Bergamin, N.; Bordugo, A.; Sechi, A.; Scarpa, M.; Biasizzo, J.; Colucci, F.; Dardis, A.
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology 1-gen-2023 Ormazabal, Maximiliano Emanuel; Pavan, Eleonora; Vaena, Emilio; Ferino, Dania; Biasizzo, Jessica; Mucci, Juan Marcos; Serra, Fabrizio; Cifù, Adriana; Scarpa, Maurizio; Rozenfeld, Paula Adriana; Dardis, Andrea Elena
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
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 1-gen-2024 Colucci, F.; Dardis, A.; Pavan, E.; Scarpa, M.; Gozzi, A.; Antenucci, P.; Farne, M.; Neri, M.; Ferlini, A.; Tugnoli, V.; Sechi, A.; Sensi, M.
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.