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

Angiographic Characteristics in Moyamoya Disease with the p.R4810K Variant: A Propensity Score–Matched Analysis

(2020) Peicong Ge et al.   EUROPEAN JOURNAL OF NEUROLOGY

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

(2020) Yue Wang et al.   NEUROLOGY

De Novo Renal Artery Stenosis Developed in Initially Normal Renal Arteries during the Long-Term Follow-Up of Patients with Moyamoya Disease

(2020) Shoko Hara et al.   Journal of Stroke & Cerebrovascular Diseases

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Association of Genetic Variants With Moyamoya Disease in 13 000 Individuals

(2020) Xiaotong Wang et al.   STROKE

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

Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant

(2019) Qian Zhang et al.   JOURNAL OF CHILD NEUROLOGY

Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease

(2019) Peicong Ge et al.   Frontiers in Neurology

Brain compression by encephalo-myo-synangiosis is a risk factor for transient neurological deficits after surgical revascularization in pediatric patients with moyamoya disease

(2019) Fumiaki Kanamori et al.   World Neurosurgery

Surgical outcomes for pediatric moyamoya: a systematic review and meta-analysis

(2019) Krishnan Ravindran et al.   Journal of Neurosurgery-Pediatrics

Posterior cerebral artery stenosis and posterior circulation revascularization surgery in pediatric patients with moyamoya disease

(2018) Tomomi Kimiwada et al.   Journal of Neurosurgery-Pediatrics

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance

(2017) Qian Zhang et al.   JOURNAL OF NEUROSURGERY

Correlation between Clinical Presentations and Hemodynamic Parameters Measured by Dynamic Susceptibility Contrast Magnetic Resonance Imaging in Adult Patients with Moyamoya Disease

(2017) Sakyo Hirai et al.   Journal of Stroke & Cerebrovascular Diseases

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

Case of Familial Moyamoya Disease Presenting 10 Years After Initial Negative Magnetic Resonance Screening in Childhood

(2017) Jiro Aoyama et al.   World Neurosurgery

Correlation between Clinical Presentations and Hemodynamic Parameters Measured by Dynamic Susceptibility Contrast Magnetic Resonance Imaging in Adult Patients with Moyamoya Disease

(2017) Sakyo Hirai et al.   Journal of Stroke & Cerebrovascular Diseases

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

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

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

First autopsy analysis of a neovascularized arterial network induced by indirect bypass surgery for moyamoya disease: case report

(2016) Maki Mukawa et al.   JOURNAL OF NEUROSURGERY

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

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

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

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

Long-term follow-up of surgically treated juvenile patients with moyamoya disease

(2012) Maki Mukawa et al.   Journal of Neurosurgery-Pediatrics

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