Associated Papers
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
[Association of Rare RNF213 Variants and Moyamoya Disease].
Akagawa H
No Shinkei Geka. Neurological Surgery, 2025
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.
Nomura S et al.
Translational Stroke Research, 2024
RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.
Fang J et al.
Chinese Medical Journal, 2024
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
Rare RNF213 variant in adolescent with moyamoya disease.
Cardoso I et al.
Revista De Neurologia, 2023
Association of RNF213 Variants With Periventricular Anastomosis in Moyamoya Disease.
Xue Y et al.
Stroke, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Santoro C et al.
International Journal of Molecular Sciences, 2022
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
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
Association of Genetic Variants With Moyamoya Disease in 13 000 Individuals: A Meta-Analysis.
Wang X et al.
Stroke, 2020
Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism.
Nomura S et al.
World Neurosurgery, 2019
Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study.
Liao X et al.
Bmc Medical Genetics, 2019
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease.
Akagawa H et al.
Human Genome Variation, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.
Lin J et al.
Biomed Research International, 2018
Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.
Liao X et al.
Environmental Health and Preventive Medicine, 2017
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S et al.
European Journal of Human Genetics : Ejhg, 2017
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
Zhang Q et al.
Journal of Neurosurgery, 2017
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.
Jang MA et al.
Plos One, 2017
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
Zhou S et al.
American Journal of Human Genetics, 2016
A new horizon of moyamoya disease and associated health risks explored through RNF213.
Koizumi A et al.
Environmental Health and Preventive Medicine, 2016
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.
Kobayashi H et al.
Plos One, 2016
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.
Moteki Y et al.
Journal of the American Heart Association, 2015
Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan.
Lee MJ et al.
Journal of the Neurological Sciences, 2015
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Cecchi AC et al.
Stroke, 2014
Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.
Wu Z et al.
Plos One, 2012
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
Liu W et al.
Plos One, 2011