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

Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease

(2015) Akira Ito et al.   BRAIN RESEARCH

Clinical features and long-term outcomes of moyamoya disease: a single-center experience with 528 cases in China

(2015) Xing-ju Liu et al.   JOURNAL OF NEUROSURGERY

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

(2015) Laurence Campens et al.   Orphanet Journal of Rare Diseases

Epidemiological Features of Moyamoya Disease in Japan

(2015) Haruhiko HOSHINO et al.   NEUROLOGIA MEDICO-CHIRURGICA

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

(2014) Dominique Hervé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman’s syndrome patients

(2014) Beatriz Tavira et al.   JOURNAL OF HUMAN GENETICS

Incidence, Prevalence, and Survival of Moyamoya Disease in Korea

(2014) Il Min Ahn et al.   STROKE

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

(2014) Alana C. Cecchi et al.   STROKE

Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects

(2013) Xiaomeng Wang et al.   GENE

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

(2013) et al.   NEUROLOGIA MEDICO-CHIRURGICA

The natural history of Moyamoya in a North American adult cohort

(2012) Bradley A. Gross et al.   JOURNAL OF CLINICAL NEUROSCIENCE

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

(2012) S. Miyatake et al.   NEUROLOGY

Sex Differences in Clinical Presentation and Treatment Outcomes in Moyamoya Disease

(2012) Nadia Khan et al.   NEUROSURGERY

Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population

(2012) Zhiyuan Wu et al.   PLoS One

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

(2011) Snaigune Miskinyte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Wanyang Liu et al.   PLoS One

Moyamoya Disease in China

(2011) Lian Duan et al.   STROKE

Pediatric moyamoya disease: An analysis of 410 consecutive cases

(2010) Seung-Ki Kim et al.   ANNALS OF NEUROLOGY

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

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

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epidemiological and clinical features of Moyamoya disease in Nanjing, China

(2009) Wei Miao et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS 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