Last Updated: 09/26/2026
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Found 25 publications
Developmental genetic determinants of the human cerebrospinal fluid-ventricular system.
Journal: Science translational medicine
Published: July 08, 2026
De novo chromatin remodelling variants in sporadic Chiari 1 malformation.
Journal: Brain : a journal of neurology
Published: February 19, 2026
Diagnostic utility of additional spine imaging for syrinx detection in the pre-operative assessment of pediatric Chiari malformation type 1.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: September 27, 2025
Concurrent Chiari malformation type I and hydrocephalus: Integrating mechanistic and pathophysiological insights toward a unified management paradigm.
Journal: Experimental neurology
Published: August 24, 2025
Animal models of Chiari malformation types 1 and 2: Mechanistic insights and translational challenges.
Journal: Experimental neurology
Published: August 02, 2025
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 25, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Journal: Brain : a journal of neurology
Published: June 24, 2024
Clinical phenotypes among patients with familial forms of Chiari malformation type 1.
Journal: Journal of neurosurgery. Pediatrics
Published: April 05, 2024
Utility of cortical tissue analysis in normal pressure hydrocephalus.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: November 26, 2023
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Journal: Brain : a journal of neurology
Published: October 26, 2023
Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: August 07, 2023
Last Updated: 09/26/2026