De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel funct...
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
About this item
Full title
Author / Creator
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 , Züchner, Stephan , Krägeloh-Mann, Ingeborg , Baets, Jonathan , de Jonghe, Peter , Bauer, Peter , Chen, S R Wayne , Schöls, Ludger and Schüle, Rebecca
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a European EOA target cohort (n = 120), US-American EOA validation cohort (n = 72), and early-onset epil...
Alternative Titles
Full title
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
Authors, Artists and Contributors
Author / Creator
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
Züchner, Stephan
Krägeloh-Mann, Ingeborg
Baets, Jonathan
de Jonghe, Peter
Bauer, Peter
Chen, S R Wayne
Schöls, Ludger
Schüle, Rebecca
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6189112
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6189112
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0206-3
