Associated Papers
Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.
Sang B et al.
Medicine, 2026
De novo variant in RING finger protein 213 causes systemic vasculopathy.
Kashimada A et al.
Jci Insight, 2025
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.
Hara S et al.
Journal of Neurosurgery. Pediatrics, 2022
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease.
Akagawa H et al.
Human Genome Variation, 2018
RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.
Lin J et al.
Biomed Research International, 2018
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