Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease

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

(2022) Claudia Santoro et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Genetic Basis of Moyamoya Disease

(2021) R. Mertens et al.   Translational Stroke Research

Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients

(2021) Shoko Hara et al.   Journal of Neurosurgery-Pediatrics

Surgical Options and Genetic Screening of a Patient With Moyamoya Disease Harboring the RNF213 p.R4180 K Homozygous Variant

(2020) Shunsuke Nomura et al.   JOURNAL OF CHILD NEUROLOGY

Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism

(2020) Juraj Ahel et al.   eLife

Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism

(2019) Shunsuke Nomura et al.   World Neurosurgery

Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease

(2019) Shunsuke Nomura et al.   CEREBROVASCULAR DISEASES

Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease

(2018) Shunsuke Nomura et al.   JOURNAL OF NEUROSURGERY

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease

(2016) Eun-Hee Kim et al.   JOURNAL OF NEUROSURGERY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

(2016) Hatasu Kobayashi et al.   PLoS One

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

(2015) Y. Moteki et al.   Journal of the American Heart Association

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

(2014) Alana C. Cecchi et al.   STROKE

Genetics and Biomarkers of Moyamoya Disease: Significance ofRNF213as a Susceptibility Gene

(2014) Miki Fujimura et al.   Journal of Stroke

Guidelines for Diagnosis and Treatment of Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis)

(2013) et al.   NEUROLOGIA MEDICO-CHIRURGICA

Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

(2013) Satoru Miyawaki et al.   STROKE

Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

(2012) S. Miyatake et al.   NEUROLOGY

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS

Moyamoya Disease and Moyamoya Syndrome

(2009) R. Michael Scott et al.   NEW ENGLAND JOURNAL OF MEDICINE

Moyamoya disease: current concepts and future perspectives

(2008) Satoshi Kuroda et al.   LANCET NEUROLOGY