Associated Papers
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
36012218 (PubMed )
Supplement: ijms-23-08952-s001.zip › Table_S3.pdf
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
32686731 (PubMed )
Supplement: 41598_2020_68888_MOESM1_ESM.pdf
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
30925911 (PubMed )
Supplement: 12881_2019_788_MOESM2_ESM.xlsx › Sheet1
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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
29165161 (PubMed )
Supplement: 12199_2017_680_MOESM2_ESM.xlsx › RNF213_rare_variants
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
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 an ethnically diverse population with Moyamoya disease.
Cecchi AC et al.
Stroke, 2014
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