Last Updated: 09/26/2026
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Found 55 publications
Towards precision medicine for brain arteriovenous malformations.
Journal: The Journal of clinical investigation
Published: May 15, 2026
Re-Purposing Sapropterin (Kuvan) for ACTA2-Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First-In-Human Therapeutic Report.
Journal: Annals of clinical and translational neurology
Published: February 22, 2026
Smooth Muscle Dysfunction Drives Cerebrovascular Reserve Failure and End-Organ Brain Injury.
Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026
Ophthalmic Artery Occlusion as a Novel Ophthalmic Manifestation of ACTA2- Related Vascular Smooth Muscle Disorder.
Journal: Ophthalmic surgery, lasers & imaging retina
Published: July 25, 2025
An opportune time for targeted brain arteriovenous malformation therapy.
Journal: Journal of neurosurgery
Published: July 11, 2025
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.
Journal: Ophthalmic genetics
Published: July 07, 2025
Gene therapy in cardiac and vascular diseases: a review of approaches to treat genetic and common cardiovascular diseases with novel gene-based therapeutics.
Journal: Cardiovascular research
Published: May 09, 2025
Involvement of the Posterior Visual Pathway Correlates With Higher-Order Visual Impairment in Childhood Stroke Participants Detected by Virtual Reality/Eye-Tracking Paradigm.
Journal: Pediatric neurology
Published: March 26, 2025
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.
Journal: EClinicalMedicine
Published: January 20, 2025
Last Updated: 09/26/2026