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Moyamoya disease: diagnosis and interventions

LANCET NEUROLOGY (2022)

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Article Clinical Neurology

Revascularization of Hemorrhagic Moyamoya Disease in a North American Cohort: The Role of Timing in Perioperative and Long-Term Outcomes

Risheng Xu et al.

Summary: This study compared the clinical outcomes of conservative management and surgical revascularization for North American patients with hemorrhagic MMD. The results showed that conservative management was associated with higher mortality and worsened neurological outcomes, while early revascularization was associated with higher rates of postoperative seizures and wound complications.

NEUROSURGERY (2022)

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Article Clinical Neurology

Asymptomatic Moyamoya Disease in a North American Adult Cohort

Pui Man Rosalind Lai et al.

Summary: This study investigated the natural history of asymptomatic adult moyamoya disease (MMD) in a North American cohort and evaluated the effects of treatment on disease progression. The results showed an overall 1.7% annual rate of radiographic infarction or hemorrhage in asymptomatic MMD patients. Surgical treatment did not show significant benefits within the study period, but asymptomatic patients with expected long-term survival may benefit from surgery.

WORLD NEUROSURGERY (2022)

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Article Biology

MMD-associated RNF213 SNPs encode dominant-negative alleles that globally impair ubiquitylation

Abhishek Bhardwaj et al.

Summary: Single-nucleotide polymorphisms in the RNF213 gene are associated with moyamoya disease (MMD), a rare cerebrovascular disorder. These SNPs primarily affect the E3 ligase activity of RNF213, and the pathogenesis of MMD is closely linked to the decreased E3 ligase activity of RNF213.

LIFE SCIENCE ALLIANCE (2022)

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Article Clinical Neurology

Five-Year Outcomes of Medical Management Alone for Adult Patients with Ischemic Moyamoya Disease without Cerebral Misery Perfusion

Kei Kitakami et al.

Summary: The study followed 68 adult patients with ischemic MMD without cerebral misery perfusion for 5 years, revealing a 3% rate of further ischemic events during the subsequent 3-year follow-up. In patients without additional events, cerebral blood flow significantly increased and cognitive function remained stable or improved over the 5-year period.

CEREBROVASCULAR DISEASES (2022)

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Article Cardiac & Cardiovascular Systems

Association of Antiplatelet Therapy, Including Cilostazol, With Improved Survival in Patients With Moyamoya Disease in a Nationwide Study

Woo-Keun Seo et al.

Summary: Administration of antiplatelet agents can reduce the risk of death in patients with moyamoya disease, with cilostazol showing greater survival benefit compared to other antiplatelet regimens. Various analyses consistently supported the use of antiplatelet therapy in patients with moyamoya disease.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2021)

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Article Multidisciplinary Sciences

Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity

Fabien Thery et al.

Summary: The researchers identify RNF213 as a sensor for ISGylated proteins on the surface of lipid droplets, showing both antiviral properties and the ability to target intracellular bacteria. RNF213, induced by interferon, exhibits broad antimicrobial activity against various infections and oligomerizes on lipid droplets as a sensor for ISGylated proteins.

NATURE COMMUNICATIONS (2021)

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Article Genetics & Heredity

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

Alanna Strong et al.

Summary: RNF213 protein may cause Mendelian moyamoya disease and act as a genetic susceptibility locus, leading to a new multi-organ spectrum disease.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Cell Biology

Dysregulation of Rnf 213 gene contributes to T cell response via antigen uptake, processing, and presentation

Ryosuke Tashiro et al.

Summary: The study found that RNF213 plays a critical role in antigen uptake, processing, and presentation, with Rnf213-KO and Rnf213-KI mice experiments showing that RNF213 deficiency leads to decreased antigen uptake and processing capabilities, resulting in the inability to effectively activate antigen-specific T cells.

JOURNAL OF CELLULAR PHYSIOLOGY (2021)

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Article Multidisciplinary Sciences

Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection

Elsje G. Otten et al.

Summary: The study reveals that the ubiquitin coat on Salmonella invading the cytosol is formed through the ubiquitylation of the lipid A moiety of bacterial lipopolysaccharide by E3 ubiquitin ligase RNF213, which is a risk factor for moyamoya disease. RNF213 is essential for restricting bacterial proliferation and triggering the generation of the bacterial ubiquitin coat, leading to cell-autonomous immunity against intracellular bacteria.

NATURE (2021)

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Article Clinical Neurology

Direct vs Indirect Revascularization in a North American Cohort of Moyamoya Disease

Pui Man Rosalind Lai et al.

Summary: This study found no significant difference in outcomes between direct and indirect revascularization procedures in adults with ischemic MMD. There were fewer long-term ischemic and hemorrhagic events in hemispheres with direct bypasses compared to indirect bypasses. However, both procedures showed similar outcomes in terms of infarction and hemorrhage, as well as clinical outcome.

NEUROSURGERY (2021)

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Article Peripheral Vascular Disease

The association between the Moyamoya disease susceptible gene RNF213 variant and incident cardiovascular disease in a general population: the Nagahama study

Yasuharu Tabara et al.

Summary: The study indicates an association between the Moyamoya disease susceptible gene RNF213 variant and the incidence of cardiovascular disease in the Japanese general population. Carriers of the variant allele had a higher incidence rate of cardiovascular diseases, particularly major adverse cardiac events.

JOURNAL OF HYPERTENSION (2021)

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Editorial Material Clinical Neurology

Growing research: how neurosurgeons can lead the development of nonsurgical treatments for moyamoya disease

Edward R. Smith

NEUROSURGICAL FOCUS (2021)

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Article Clinical Neurology

Transcriptome-wide analysis of intracranial artery in patients with moyamoya disease showing upregulation of immune response, and downregulation of oxidative phosphorylation and DNA repair

Fumiaki Kanamori et al.

Summary: This study identified a specific gene expression profile within the intracranial artery of patients with MMD, showing upregulation of genes related to immune responses and downregulation of genes related to DNA repair and oxidative phosphorylation. These findings provide insights into the pathophysiology of MMD.

NEUROSURGICAL FOCUS (2021)

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Article Clinical Neurology

DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease

Adam J. Kundishora et al.

Summary: A genetic association study identified rare damaging variants associated with Moyamoya disease (MMD) risk, suggesting DIAPH1 as a novel MMD risk gene and highlighting the importance of impaired vascular cell actin remodeling in MMD pathogenesis for diagnostic and therapeutic implications.

JAMA NEUROLOGY (2021)

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Article Behavioral Sciences

A meta-analysis of comparisons of various surgical treatments for moyamoya diseases

Kai Lin et al.

Summary: This study revealed that direct and combined bypass surgeries have a lower recurrence rate of stroke compared to indirect bypass surgery in treating MMD. Additionally, cases undergoing direct bypass surgery showed better angiographic changes than those undergoing an indirect bypass.

BRAIN AND BEHAVIOR (2021)

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Review Medicine, General & Internal

Differences in Clinical Features among Different Onset Patterns in Moyamoya Disease

Yudai Hirano et al.

Summary: Moyamoya disease is characterized by severe stenosis of the bilateral internal carotid arteries and the development of collateral circulation, with diverse age at onset, onset patterns, radiological findings, and genetic phenotypes. Screening with magnetic resonance imaging has increased the identification of asymptomatic cases, and recent reports have investigated the associations between clinical features and imaging characteristics of different onset patterns.

JOURNAL OF CLINICAL MEDICINE (2021)

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Article Clinical Neurology

Validation and Application for the Berlin Grading System of Moyamoya Disease in Adult Patients

Mario Teo et al.

NEUROSURGERY (2020)

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Article Clinical Neurology

Arterial wall contrast enhancement in progressive moyamoya disease

Constantin Roder et al.

JOURNAL OF NEUROSURGERY (2020)

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Review Clinical Neurology

Moyamoya Disease and Spectrums of RNF213 Vasculopathy

Oh Young Bang et al.

TRANSLATIONAL STROKE RESEARCH (2020)

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Article Biology

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

Juraj Ahel et al.

ELIFE (2020)

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Article Biochemistry & Molecular Biology

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

Francesca Tinelli et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Clinical Neurology

Characteristics of cognitive impairment in adult asymptomatic moyamoya disease

Shihao He et al.

BMC NEUROLOGY (2020)

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Article Multidisciplinary Sciences

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis

Hiroki Hongo et al.

SCIENTIFIC REPORTS (2020)

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Article Clinical Neurology

Association Between the Onset Pattern of Adult Moyamoya Disease and Risk Factors for Stroke

Yudai Hirano et al.

STROKE (2020)

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Article Cardiac & Cardiovascular Systems

Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease

Tae Keun Jee et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2020)

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Article Clinical Neurology

Longitudinal anterior-to-posterior shift of collateral channels in patients with moyamoya disease: an implication for its hemorrhagic onset

Shusuke Yamamoto et al.

JOURNAL OF NEUROSURGERY (2019)

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Article Clinical Neurology

High rebleeding risk associated with choroidal collateral vessels in hemorrhagic moyamoya disease: analysis of a nonsurgical cohort in the Japan Adult Moyamoya Trial

Takeshi Funaki et al.

JOURNAL OF NEUROSURGERY (2019)

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Article Clinical Neurology

Cilostazol may improve cognition better than clopidogrel in non-surgical adult patients with ischemic moyamoya disease: subanalysis of a prospective cohort

Satoshi Ando et al.

NEUROLOGICAL RESEARCH (2019)

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Editorial Material Psychiatry

Psychiatric Comorbidity in Moyamoya Disease and Preliminary Guidelines For Treatment

Misty Richards et al.

AMERICAN JOURNAL OF PSYCHIATRY (2019)

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Article Genetics & Heredity

Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study

Xin Liao et al.

BMC MEDICAL GENETICS (2019)

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Article Clinical Neurology

Characteristics of Moyamoya Disease Based on National Registry Data in Japan

Yoko Sato et al.

STROKE (2019)

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Article Cardiac & Cardiovascular Systems

Ring Finger Protein 213 Variant and Plaque Characteristics, Vascular Remodeling, and Hemodynamics in Patients With Intracranial Atherosclerotic Stroke: A High-Resolution Magnetic Resonance Imaging and Hemodynamic Study

Eun-Hyeok Choi et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2019)

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Article Cardiac & Cardiovascular Systems

TPO-Ab plays a role in arterial remodeling in patients with intracranial stenosis

Xuting Zhang et al.

ATHEROSCLEROSIS (2019)

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Letter Cardiac & Cardiovascular Systems

Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis

Shuhei Okazaki et al.

CIRCULATION (2019)

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Article Neuroimaging

Hypercapnic BOLD MRI compared to H215O PET/CT for the hemodynamic evaluation of patients with Moyamoya Disease

Till-Karsten Hauser et al.

NEUROIMAGE-CLINICAL (2019)

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Article Radiology, Nuclear Medicine & Medical Imaging

4D ASL-based MR angiography for visualization of distal arteries and leptomeningeal collateral vessels in moyamoya disease: a comparison of techniques

Osamu Togao et al.

EUROPEAN RADIOLOGY (2018)

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Article Neurosciences

RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis

Yue Wang et al.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES (2018)

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Article Multidisciplinary Sciences

Dysregulation of RNF213 promotes cerebral hypoperfusion

Takaaki Morimoto et al.

SCIENTIFIC REPORTS (2018)

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Article Neurosciences

RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis

Yue Wang et al.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES (2018)

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Article Cardiac & Cardiovascular Systems

Rare variants In RNF2I3, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice

Hatasu Kobayashi et al.

PULMONARY CIRCULATION (2018)

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Article Biochemistry & Molecular Biology

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

Stephanie Guey et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

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Article Clinical Neurology

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

Qian Zhang et al.

JOURNAL OF NEUROSURGERY (2017)

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Article Clinical Neurology

Novel insights into symptomatology of moyamoya disease in pediatric patients: survey of symptoms suggestive of orthostatic intolerance

Haruto Uchino et al.

JOURNAL OF NEUROSURGERY-PEDIATRICS (2017)

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Review Public, Environmental & Occupational Health

Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review

Xin Liao et al.

ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE (2017)

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Article Multidisciplinary Sciences

Significant association of RNF213 p. R4810K, a moyamoya susceptibility variant, with coronary artery disease

Takaaki Morimoto et al.

PLOS ONE (2017)

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Article Clinical Neurology

Acute Preoperative Infarcts and Poor Cerebrovascular Reserve Are Independent Risk Factors for Severe Ischemic Complications following Direct Extracranial-Intracranial Bypass for Moyamoya Disease

M. U. Antonucci et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2016)

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Article Clinical Neurology

Significance of the Hemorrhagic Site for Recurrent Bleeding Prespecified Analysis in the Japan Adult Moyamoya Trial

Jun C. Takahashi et al.

STROKE (2016)

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Review Public, Environmental & Occupational Health

A new horizon of moyamoya disease and associated health risks explored through RNF213

Akio Koizumi et al.

ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE (2016)

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Article Neurosciences

Mutation of rnf213a by TALEN causes abnormal angiogenesis and circulation defects in zebrafish

Jun Wen et al.

BRAIN RESEARCH (2016)

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Review Clinical Neurology

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

Anna Bersano et al.

CEREBROVASCULAR DISEASES (2016)

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Article Genetics & Heredity

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

S. Wallace et al.

CLINICAL GENETICS (2016)

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Article Biochemistry & Molecular Biology

Vasculogenic and Angiogenic Pathways in Moyamoya Disease

Gloria Bedini et al.

CURRENT MEDICINAL CHEMISTRY (2016)

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Article Cell Biology

Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca2+/NFAT Signaling

Beate Scholz et al.

DEVELOPMENTAL CELL (2016)

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Article Clinical Neurology

Determinants of Basal Collaterals in Moyamoya Disease: Clinical and Genetic Factors

Jong-Won Chung et al.

EUROPEAN NEUROLOGY (2016)

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Article Multidisciplinary Sciences

A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis

Oh Young Bang et al.

PLOS ONE (2016)

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Review Clinical Neurology

Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

Jong S. Kim

JOURNAL OF STROKE (2016)

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Article Multidisciplinary Sciences

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

Hatasu Kobayashi et al.

PLOS ONE (2016)

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Article Clinical Neurology

Distinct clinical and radiographic characteristics of moyamoya disease amongst European Caucasians

G. Acker et al.

EUROPEAN JOURNAL OF NEUROLOGY (2015)

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Article Radiology, Nuclear Medicine & Medical Imaging

Noninvasive method for mapping CVR in moyamoya disease using ASL-MRI

Tomoyuki Noguchi et al.

EUROPEAN JOURNAL OF RADIOLOGY (2015)

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Review Clinical Neurology

Cognitive Dysfunction Survey of the Japanese Patients with Moyamoya Disease (COSMO-JAPAN Study): Study Protocol

Yasushi Takagi et al.

NEUROLOGIA MEDICO-CHIRURGICA (2015)

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Review Clinical Neurology

Asymptomatic Moyamoya Disease: Literature Review and Ongoing AMORE Study

Satoshi Kuroda

NEUROLOGIA MEDICO-CHIRURGICA (2015)

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Article Clinical Neurology

Vascular remodeling of the circle of Willis in moyamoya disease

Takeshi Mikami et al.

NEUROLOGICAL RESEARCH (2015)

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Article Neurosciences

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease

Shinya Sonobe et al.

BRAIN RESEARCH (2014)

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Article Clinical Neurology

High-Resolution Magnetic Resonance Wall Imaging Findings of Moyamoya Disease

Sookyung Ryoo et al.

STROKE (2014)

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Article Clinical Neurology

Effects of Extracranial-Intracranial Bypass for Patients With Hemorrhagic Moyamoya Disease Results of the Japan Adult Moyamoya Trial

Susumu Miyamoto et al.

STROKE (2014)

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Article Biochemistry & Molecular Biology

Ablation of Rnf213 retards progression of diabetes in the Akita mouse

Hatasu Kobayashi et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2013)

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Article Genetics & Heredity

Immune response profiling identifies autoantibodies specific to Moyamoya patients

Tara K. Sigdel et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

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Article Public, Environmental & Occupational Health

P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure

Akio Koizumi et al.

ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE (2013)

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Review Immunology

The role of dendritic cells in autoimmunity

Dipyaman Ganguly et al.

NATURE REVIEWS IMMUNOLOGY (2013)

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Article Clinical Neurology

Outer-diameter narrowing of the internal carotid and middle cerebral arteries in moyamoya disease detected on 3D constructive interference in steady-state MR image: is arterial constrictive remodeling a major pathogenesis?

Yasuyuki Kaku et al.

ACTA NEUROCHIRURGICA (2012)

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Article Clinical Neurology

Distribution of Moyamoya Disease Susceptibility Polymorphism p.R4810K in RNF213 in East and Southeast Asian Populations

Wanyang Liu et al.

NEUROLOGIA MEDICO-CHIRURGICA (2012)

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Article Clinical Neurology

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

S. Miyatake et al.

NEUROLOGY (2012)

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Article Clinical Neurology

Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion

Satoru Miyawaki et al.

STROKE (2012)

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Article Biochemistry & Molecular Biology

Phenotype Switch of Vascular Smooth Muscle Cells After siRNA Silencing of Filamin

Guangming Zhu et al.

CELL BIOCHEMISTRY AND BIOPHYSICS (2011)

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Article Genetics & Heredity

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

Fumiaki Kamada et al.

JOURNAL OF HUMAN GENETICS (2011)

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Article Clinical Neurology

Increased Thyroid Function and Elevated Thyroid Autoantibodies in Pediatric Patients With Moyamoya Disease A Case-Control Study

Hao Li et al.

STROKE (2011)

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Review Clinical Neurology

Movement Disorders Associated with Moyamoya Disease: A Report of 4 New Cases and a Review of Literatures

Jong Sam Baik et al.

MOVEMENT DISORDERS (2010)

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Article Clinical Neurology

Association of Thyroid Autoantibodies With Moyamoya-Type Cerebrovascular Disease A Prospective Study

Suk Jae Kim et al.

STROKE (2010)

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Review Medicine, General & Internal

MEDICAL PROGRESS Moyamoya Disease and Moyamoya Syndrome

R. Michael Scott et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

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Article Radiology, Nuclear Medicine & Medical Imaging

Microbleeds in Moyamoya disease: susceptibility-weighted imaging versus T2*-weighted imaging at 3 tesla

Nobuyuki Mori et al.

INVESTIGATIVE RADIOLOGY (2008)

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Review Clinical Neurology

Moyamoya disease: current concepts and future perspectives

Satoshi Kuroda et al.

LANCET NEUROLOGY (2008)

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Article Clinical Neurology

Moyamoya disease in Washington state and California

K Uchino et al.

NEUROLOGY (2005)

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