Eleonora Pavan

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Andrea Dardis, Helen Michelakakis, Paula Rozenfeld et al. · Orphanet Journal of Rare Diseases · 2022 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CRISPR/Cas9 Editing for Gaucher Disease Modelling

Eleonora Pavan, Maximiliano Ormazábal, Paolo Peruzzo et al. · International Journal of Molecular Sciences · 2020 · 23 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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

Giovanni Ciana, Andrea Dardis, Eleonora Pavan et al. · Molecular Genetics and Metabolism Reports · 2020 · 20 citations · Full text

Medicine, Neurology, Pharmacology +13

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)

Andrea Dardis, Eleonora Pavan, Martina Fabris et al. · Journal of Clinical Medicine · 2021 · 19 citations · Full text

Medicine, Neurology, Neuroscience +17

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

Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan et al. · International Journal of Molecular Sciences · 2021 · 10 citations · Full text

Medicine, Genetics, Molecular Genetics +17