Associated Papers
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Ca2+ signaling and spinocerebellar ataxia.
Hisatsune C et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M et al.
European Journal of Human Genetics : Ejhg, 2018
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL et al.
Orphanet Journal of Rare Diseases, 2017
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
Hsiao CT et al.
Plos One, 2017
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M et al.
American Journal of Human Genetics, 2016
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