Author
University of MilanORCID 0000-0002-8883-0468Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
M.E. Cicardi, Sara Antonini, Ivette Martorell Serra…·Davide Trotti
This study develops a human neuronal model with the TDP-43 A315T mutation to study ALS-related protein dysfunction and therapeutic responses.
Alyaa Shmara, Lan Nguyen Weiss, Anastasia Gromova…·Virginia E. Kimonis
This study characterizes a HSPB8 knock-in mouse model of MFM13 and evaluates trehalose as a potential autophagy modulating therapy for HSPB8-related myopathy.
Jiayan Tan, Han Duong, Margherita Milone…·Virginia E. Kimonis
The paper reports a novel HSPB8 mutation causing multisystem proteinopathy with inclusion body myopathy and cardiomyopathy, highlighting sex differences in disease severity and onset.