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

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

dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Harmuth, Florian
dc.contributor.author	Gburek-Augustat, Janina
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Bauer, Peter
dc.contributor.author	Schüle-Freyer, Rebecca
dc.date.accessioned	2019-08-26T13:04:28Z
dc.date.available	2019-08-26T13:04:28Z
dc.date.issued	2018
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10900/91897
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-018-0206-3	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_00675
utue.publikation.seiten	1623-1634	de_DE
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Helbig, Katherine L.
utue.personen.roh	Harmuth, Florian
utue.personen.roh	Deconinck, Tine
utue.personen.roh	Tanpaiboon, Pranoot
utue.personen.roh	Sun, Bo
utue.personen.roh	Guo, Wenting
utue.personen.roh	Wang, Ruiwu
utue.personen.roh	Palmaer, Erika
utue.personen.roh	Tang, Sha
utue.personen.roh	Schaefer, G. Bradley
utue.personen.roh	Gburek-Augustat, Janina
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Kraegeloh-Mann, Ingeborg
utue.personen.roh	Baets, Jonathan
utue.personen.roh	de Jonghe, Peter
utue.personen.roh	Bauer, Peter
utue.personen.roh	Chen, S. R. Wayne
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Schuele, Rebecca
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	11	de_DE
dcterms.isPartOf.ZS-Volume	26	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE