1. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Issue 12 (15th November 2021) Authors: Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sa... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Issue 3 (14th December 2015) Authors: Davids, Mariska; Kane, Megan S; He, Miao; Wolfe, Lynne A; Li, Xueli; Raihan, Mohd A; Chao, Katherine R; Bone, William P; Boerkoel, Cornelius F; Gahl, William A; Toro, Camilo Journal: Journal of medical genetics Issue: Volume 53:Issue 3(2016) Page Start: 180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗