Associated Papers
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
ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.
Kleyner R et al.
Cold Spring Harbor Molecular Case Studies, 2023
[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].
Zhi YN et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R et al.
International Journal of Molecular Sciences, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Kinoshita A et al.
Development (cambridge, England), 2021
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
Gambardella J et al.
Journal of Clinical Medicine, 2020
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.
Won D et al.
Frontiers in Neurology, 2020
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada A et al.
Brain & Development, 2019
Spinocerebellar Ataxia type 29 in a family of Māori descent.
Ngo KJ et al.
Cerebellum & Ataxias, 2019
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
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
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.
Casey JP et al.
Journal of Neurology, 2017
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Barresi S et al.
Clinical Genetics, 2017
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
van Dijk T et al.
American Journal of Medical Genetics. Part A, 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
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M et al.
Neurochemistry International, 2016
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Sasaki M et al.
Journal of Neurology, 2015
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C et al.
Neurogenetics, 2013