Spinocerebellar Ataxia Type 29 Latest Advances
Find the Latest Research About Spinocerebellar Ataxia Type 29
Last Updated: 04/28/2026
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Found 23 publications
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling.
Journal: American journal of medical genetics. Part A
Published: July 08, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
Journal: American journal of medical genetics. Part A
Published: March 22, 2025
ITPR1: The missing gene in miosis-ataxia syndrome?
Journal: American journal of medical genetics. Part A
Published: January 24, 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.
Journal: Molecular genetics & genomic medicine
Published: December 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Journal: Prenatal diagnosis
Published: July 19, 2023
ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.
Journal: Cold Spring Harbor molecular case studies
Published: July 05, 2023
Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 30, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Journal: International journal of molecular sciences
Published: May 06, 2022
Spinocerebellar Ataxia type 29 in a family of Māori descent.
Journal: Cerebellum & ataxias
Published: August 10, 2019
Isolation, characterization, and structural elucidation of 4-methoxyacetanilide from marine actinobacteria Streptomyces sp. SCA29 and evaluation of its enzyme inhibitory, antibacterial, and cytotoxic potential.
Journal: Archives of microbiology
Published: January 08, 2019
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 16, 2018
Last Updated: 04/28/2026