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

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dc.contributor.author Synofzik, Matthis Benjamin
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 Artikel 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


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