De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S. R.Wayne Chen, Ludger Schöls, Rebecca Schüle

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Fingerprint

Dive into the research topics of 'De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function'. Together they form a unique fingerprint.

Medicine & Life Sciences