Associated Papers
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
In Lee J et al.
Molecular Genetics & Genomic Medicine, 2024
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
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
Gambardella J et al.
Journal of Clinical Medicine, 2020
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29.
Ando H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Ca2+ signaling and spinocerebellar ataxia.
Hisatsune C et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Select a paper to view details