1. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. Issue 8 (25th March 2019) Authors: Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗