1. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. (November 2018) Authors: Synofzik, Matthis; Helbig, Katherine; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G.; Gburek-Augustat, Janina; Züchner, Stephan; Krägeloh-Mann, Ingeborg; Baets, Jonathan; Jonghe, Peter; Bauer, Peter; Chen, S.; Sc... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗