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Last Updated: 10/31/2025
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Found 168 publications
Cholangiocytes' primary cilia regulate DNA damage response and repair.
Journal: American journal of physiology. Gastrointestinal and liver physiology
Published: August 12, 2025
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.
Journal: Pharmacogenomics and personalized medicine
Published: October 20, 2024
TTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.
Journal: Translational neuroscience
Published: May 28, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: March 11, 2024
BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.
Journal: Retinal cases & brief reports
Published: March 06, 2024
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Journal: Cell and tissue research
Published: August 04, 2023
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Journal: Annals of human genetics
Published: June 30, 2023
TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins.
Journal: bioRxiv : the preprint server for biology
Published: February 13, 2023
Improvement of Spinocerebellar Ataxia 3 Symptoms Treated with Eurythmy Therapy: A Case Vignette.
Journal: Complementary medicine research
Published: August 18, 2022
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Journal: Molecular neurobiology
Published: January 31, 2022
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Journal: Cerebellum (London, England)
Published: November 22, 2021
Movement disorders associated with neuronal antibodies: a data-driven approach.
Journal: Journal of neurology
Published: October 25, 2021
Last Updated: 10/31/2025