CRISPR/Cas9 Editing for Gaucher Disease Modelling

by Eleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, Emilio Vaena, Paula Rozenfeld, Andrea Dardis
Published 2020-05-01

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

by Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis
Published 2021-05-01

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

by Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi
Published 2020-12-01