Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
Miki Fujimura, Shinya Sonobe, Yasuo Nishijima, Kuniyasu Niizuma, Hiroyuki Sakata, Shigeo Kure, Teiji Tominaga
J Stroke. 2014;16(2):65-72.   Published online 2014 May 30     DOI: https://doi.org/10.5853/jos.2014.16.2.65
Citations to this article as recorded by Crossref logo
Recurrent Cerebral Infarction Due to Moyamoya Disease Complicated With Systemic Lupus Erythematosus
Qisong Wang, Qiang Yao, Si Yuan, Yan Shen, Yang Feng, Luji Liu, Yipu Zhu, Yanying Zhao, Junzhao Cui, Jin Qin, Jing Tian, Ruijie Zhao, Lijuan Liu, Yicong Zhou, Xiaoyun Liu
The Neurologist.2024; 29(1): 4.     CrossRef
Mass cytometry revealed the circulating immune cell landscape across different Suzuki stages of Moyamoya disease
Chenglong Liu, Peicong Ge, Bojian Zhang, Liujia Chan, Yuheng Pang, Chuming Tao, Junsheng Li, Qiheng He, Wei Liu, Siqi Mou, Zhiyao Zheng, Zhikang Zhao, Wei Sun, Qian Zhang, Rong Wang, Yan Zhang, Wenjing Wang, Dong Zhang, Jizong Zhao
Immunologic Research.2024; 72(4): 654.     CrossRef
Rapidly Progressive Contralateral Internal Carotid Artery Stenosis After COVID-19 Infection in a Down Syndrome Patient With Unilateral Moyamoya Arteriopathy
Blake Wittenberg, Megan Ryan, Jessa Hoffman, Timothy Bernard, Joshua Seinfeld, Corbett Wilkinson
Cureus.2024;[Epub]     CrossRef
Circulating immune cell landscape and T‐cell abnormalities in patients with moyamoya disease
Peicong Ge, Chuming Tao, Wenjing Wang, Qiheng He, Chenglong Liu, Zhiyao Zheng, Siqi Mou, Bojian Zhang, Xingju Liu, Qian Zhang, Rong Wang, Hao Li, Dong Zhang, Jizong Zhao
Clinical and Translational Medicine.2024;[Epub]     CrossRef
Assessing donor-recipient arterial pressure dynamics in STA-MCA bypass for moyamoya disease
Mohamed Helmy, Yujun Liao, Zehao Zhao, Zhiqi Li, Kangmin He, Bin Xu
Chinese Neurosurgical Journal.2024;[Epub]     CrossRef
Moyamoya Vasculopathy and Moyamoya-Related Systemic Vasculopathy: A Review With Histopathological and Genetic Viewpoints
Takeo Abumiya, Miki Fujimura
Stroke.2024; 55(6): 1699.     CrossRef
Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells
Zhengyou Li, Yang Liu, Xiumei Li, Shaojing Yang, Song Feng, Genhua Li, Feng Jin, Shanjing Nie
Neurosurgical Review.2024;[Epub]     CrossRef
RNF213 Polymorphisms in Intracranial Artery Dissection
Marialuisa Zedde, Ilaria Grisendi, Federica Assenza, Manuela Napoli, Claudio Moratti, Claudio Pavone, Lara Bonacini, Giovanna Di Cecco, Serena D’Aniello, Maria Simona Stoenoiu, Alexandre Persu, Franco Valzania, Rosario Pascarella
Genes.2024; 15(6): 725.     CrossRef
Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213
Ting-Chun Lin, Haruto Uchino, Masaki Ito, Shigeru Yamaguchi, Yukitomo Ishi, Miki Fujimura
Child's Nervous System.2024;[Epub]     CrossRef
Moya-Moya Disease in Basal Cortical Areas in a Man with a Family History of Vascular Disorders: A Case Report
Bahador Asadi, Masoud Chehri, Sheri D Pruitt, Maryam Shabany
Archives of Neuroscience.2024;[Epub]     CrossRef
Association between statin therapy and the risk of stroke in patients with moyamoya disease: a nationwide cohort study
Joonsang Yoo, Jimin Jeon, Minyoul Baik, Jinkwon Kim
Stroke and Vascular Neurology.2023; 8(4): 276.     CrossRef
Circulating Inflammatory Cytokine Associated with Poor Prognosis in Moyamoya Disease: A Prospective Cohort Study
Wei Liu, Jian Sun, Zhiyong Shi, Zheng Huang, Lebao Yu, Haibin Du, Peicong Ge, Dong Zhang
Journal of Clinical Medicine.2023; 12(3): 823.     CrossRef
Pediatric arterial ischemic stroke in Japan: Moyamoya disease or not
Shunji Mugikura, Naoko Mori
Journal of Stroke and Cerebrovascular Diseases.2023; 32(6): 107063.     CrossRef
Moyamoya Disease and Syndrome in Caucasian Patients
Nuno Neves, Susana Coelho, Natália Marto, Alexandra Bayão Horta, Raquel Gouveia
Cureus.2023;[Epub]     CrossRef
Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases
Kirsten B. Dorschel, John E. Wanebo
Frontiers in Neurology.2023;[Epub]     CrossRef
Technical evolution of pediatric neurosurgery: moyamoya disease
Joo Whan Kim, Toshiaki Hayashi, Seung-Ki Kim, Reizo Shirane
Child's Nervous System.2023; 39(10): 2819.     CrossRef
Plasma urea cycle metabolite levels and the risk of moyamoya disease
Xiaofan Yu, Peicong Ge, Yuanren Zhai, Wei Liu, Qian Zhang, Xun Ye, Xingju Liu, Rong Wang, Yan Zhang, Jizong Zhao, Dong Zhang
Frontiers in Neuroscience.2023;[Epub]     CrossRef
Factors Influencing Collateral Circulation Formation After Indirect Revascularization for Moyamoya Disease: a Narrative Review
Gan Gao, Si-meng Liu, Fang-bin Hao, Qian-Nan Wang, Xiao-Peng Wang, Min-jie Wang, Xiang-Yang Bao, Cong Han, Lian Duan
Translational Stroke Research.2023;[Epub]     CrossRef
Clinical characteristics and intracranial arterial lesions of non-young adult ischemic stroke patients with RNF213 p.R4810K variant
Shiori Ogura, Tomoyuki Ohara, Eijirou Tanaka, Shinji Ashida, Keiko Maezono-Kandori, Misaki Hanya, Ikuko Mizuta, Toshiki Mizuno
Journal of the Neurological Sciences.2023; 452: 120775.     CrossRef
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway
Fei Ye, Xingyang Niu, Feng Liang, Yuanyuan Dai, Jie Liang, Jiaoxing Li, Xiaoxin Wu, Hanyue Zheng, Tiewei Qi, Wenli Sheng
Brain.2023; 146(11): 4674.     CrossRef
RNF213 modulates γ-herpesvirus infection and reactivation via targeting the viral Replication and Transcription Activator
Huabin Tian, Kuai Yu, Liang He, Hongtao Xu, Chuanhui Han, Xiaolin Zhang, Xinlu Wang, Xuyuan Zhang, Liguo Zhang, Guangxia Gao, Hongyu Deng
Proceedings of the National Academy of Sciences.2023;[Epub]     CrossRef
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease
Shunsuke Nomura, Hiroyuki Akagawa, Koji Yamaguchi, Kenko Azuma, Akikazu Nakamura, Atsushi Fukui, Fumiko Matsuzawa, Yasuo Aihara, Tatsuya Ishikawa, Yosuke Moteki, Kentaro Chiba, Kazutoshi Hashimoto, Shuhei Morita, Taichi Ishiguro, Yoshikazu Okada, Sandra V
Translational Stroke Research.2023;[Epub]     CrossRef
Gut microbiota in adults with moyamoya disease: characteristics and biomarker identification
Xiaofan Yu, Peicong Ge, Yuanren Zhai, Wei Liu, Qian Zhang, Xun Ye, Xingju Liu, Rong Wang, Yan Zhang, Jizong Zhao, Dong Zhang
Frontiers in Cellular and Infection Microbiology.2023;[Epub]     CrossRef
Difficulties in diagnosing moyamoya disease
Yu. S. Melnikova, D. I. Sadykova, T. P. Makarova, D. M. Yasav, A. F. Khamidullin, M. F. Bikmullin
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).2023; 68(5): 102.     CrossRef
Moya Moya Disease in Monozygotic Twins: Evaluation and Management
Moothedath Rajesh Menon, V. R. Roopesh Kumar, Adhithyan Rajendran, Arul Velan
Journal of Cerebrovascular Sciences.2023; 11(1): 39.     CrossRef
Targeted metabolomics analysis of serum amino acid profiles in patients with Moyamoya disease
Xi Liu, Feng Jin, Changshui Wang, Shiyuan Zhao, Shasha Han, Pei Jiang, Changmeng Cui
Amino Acids.2022; 54(1): 137.     CrossRef
A Magnetic Resonance Angiography-Based Study Comparing Machine Learning and Clinical Evaluation: Screening Intracranial Regions Associated with the Hemorrhagic Stroke of Adult Moyamoya Disease
Hao-lin Yin, Yu Jiang, Wen-jun Huang, Shi-hong Li, Guang-wu Lin
Journal of Stroke and Cerebrovascular Diseases.2022; 31(4): 106382.     CrossRef
Neurocognitive Profiles of Caucasian Moyamoya Disease Patients in Greece: A Case Series
Georgios Papageorgiou, Dimitrios Kasselimis, Georgia Angelopoulou, Dimitrios Tsolakopoulos, Nikolaos Laskaris, Argyro Tountopoulou, Eleni Korompoki, Georgios Velonakis, Achilles Chatziioannou, Konstantinos Spengos, Constantin Potagas, Sophia Vassilopoulou
NeuroSci.2022; 3(1): 119.     CrossRef
Genetic determinants of intracranial large artery stenosis in the northern Manhattan study
Minghua Liu, Sanjeev Sariya, Farid Khasiyev, Giuseppe Tosto, Nicole D. Dueker, Ying Kuen Cheung, Clinton B. Wright, Ralph L. Sacco, Tatjana Rundek, Mitchell S.V. Elkind, Jose Gutierrez
Journal of the Neurological Sciences.2022; 436: 120218.     CrossRef
Moyamoya Disease Associated with a Deficiency of Complement Component 6
Masaru Kato, Yuki Kudo, Masanao Hatase, Naohisa Tsuchida, Shuhei Takeyama, Taku Sugiyama, Miki Fujimura, Ichiro Yabe, Hiroshi Tsujimoto, Yasuo Fukumori, Norimitsu Inoue, Tatsuya Atsumi
Journal of Stroke and Cerebrovascular Diseases.2022; 31(8): 106601.     CrossRef
Experimental Animal Models for Moyamoya Disease: A Species-Oriented Scoping Review
Lei Cao, Yang Dong, Kaiwen Sun, Dongpeng Li, Hao Wang, Hongwei Li, Bo Yang
Frontiers in Surgery.2022;[Epub]     CrossRef
Bioinformatics Strategies to Identify Shared Molecular Biomarkers That Link Ischemic Stroke and Moyamoya Disease with Glioblastoma
Md Khairul Islam, Md Rakibul Islam, Md Habibur Rahman, Md Zahidul Islam, Md Al Amin, Kazi Rejvee Ahmed, Md Ataur Rahman, Mohammad Ali Moni, Bonglee Kim
Pharmaceutics.2022; 14(8): 1573.     CrossRef
Circulating choline pathway nutrients and risk of moyamoya disease
Peicong Ge, Yaobo Zhao, Yuanren Zhai, Qian Zhang, Xun Ye, Jia Wang, Rong Wang, Yan Zhang, Dong Zhang, Jizong Zhao
Frontiers in Nutrition.2022;[Epub]     CrossRef
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, Takuya Okata, Noriko Miyake, Naomichi Matsumoto, Takanari Kitazono, Tetsuro Ago
Neurology Genetics.2022;[Epub]     CrossRef
Moyamoya Disease : Current Status of Surgical Revascularization and Research Update
Miki Fujimura, Masaki Ito, Taku Sugiyama, Masahiro Kawabori, Toshiya Osanai
Japanese Journal of Neurosurgery.2022; 31(9): 579.     CrossRef
New insights into TNFα/PTP1B and PPARγ pathway through RNF213- a link between inflammation, obesity, insulin resistance, and Moyamoya disease
Priyanka Sarkar, Kavitha Thirumurugan
Gene.2021; 771: 145340.     CrossRef
Pathological Circulating Factors in Moyamoya Disease
Yao-Ching Fang, Ling-Fei Wei, Chaur-Jong Hu, Yong-Kwang Tu
International Journal of Molecular Sciences.2021; 22(4): 1696.     CrossRef
Association of genetic variants of RNF213 with ischemic stroke risk in Koreans
Young Seok Park, Hyeon Woo Park, Han Sung Park, Chang Soo Ryu, Jeong Yong Lee, Eun Ju Ko, Jung Hoon Sung, Jinkwon Kim, Ok Joon Kim, Nam Keun Kim
Genes & Genomics.2021; 43(4): 389.     CrossRef
RNF213 rare variants and cerebral arteriovenous malformation in a Chinese population
Junyu Liu, Chongyu Hu, Jilin Zhou, Bingyang Li, Xin Liao, Songlin Liu, Yifeng Li, Dun Yuan, Weixi Jiang, Junxia Yan
Clinical Neurology and Neurosurgery.2021; 203: 106582.     CrossRef
Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases
Kirsten B Dorschel, John E Wanebo
The Application of Clinical Genetics.2021; Volume 14: 145.     CrossRef
Development and Validation of a Nomogram to Predict the Individual Future Stroke Risk for Adult Patients With Moyamoya Disease: A Multicenter Retrospective Cohort Study in China
Fei Ye, Tianzhu Wang, Haoyuan Yin, Jiaoxing Li, Haiyan Li, Tongli Guo, Xiong Zhang, Tingting Yang, Liang Jie, Xiaoxin Wu, Qi Li, Wenli Sheng
Frontiers in Neurology.2021;[Epub]     CrossRef
Hypoxic–ischemic injury causes functional and structural neurovascular degeneration in the juvenile mouse retina
Ismail S. Zaitoun, Pawan K. Shahi, Andrew Suscha, Kore Chan, Gillian J. McLellan, Bikash R. Pattnaik, Christine M. Sorenson, Nader Sheibani
Scientific Reports.2021;[Epub]     CrossRef
Flow-augmentation bypass for moyamoya disease
Miki FUJIMURA, Teiji TOMINAGA
Journal of Neurosurgical Sciences.2021;[Epub]     CrossRef
RNF213 gene silencing upregulates transforming growth factor β1 expression in bone marrow‑derived mesenchymal stem cells and is involved in the onset of Moyamoya disease
Changshui Wang, Cuilian Sun, Yueshu Zhao, Huimin Song, Zhengyou Li, Feng Jin, Changmeng Cui
Experimental and Therapeutic Medicine.2021;[Epub]     CrossRef
Moyamoya Disease and Spectrums of RNF213 Vasculopathy
Oh Young Bang, Jong-Won Chung, Dong Hee Kim, Hong-Hee Won, Je Young Yeon, Chang-Seok Ki, Hyung Jin Shin, Jong-Soo Kim, Seung Chyul Hong, Duk-Kyung Kim, Akio Koizumi
Translational Stroke Research.2020; 11(4): 580.     CrossRef
Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213
Ikuma Echizenya, Kikutaro Tokairin, Masahito Kawabori, Ken Kazumata, Kiyohiro Houkin
Journal of Stroke and Cerebrovascular Diseases.2020; 29(2): 104549.     CrossRef
Socioeconomic and demographic disparities of moyamoya disease in the United States
Arash Ghaffari-Rafi, Shadeh Ghaffari-Rafi, Jose Leon-Rojas
Clinical Neurology and Neurosurgery.2020; 192: 105719.     CrossRef
Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease
Yue Wang, Zhengshan Zhang, Ling Wei, Qian Zhang, Zhengxing Zou, Luping Yang, Desheng Li, Mengke Shang, Cong Han, Michael Mambiya, Xiangyang Bao, Qian Li, Fangbin Hao, Kaili Zhang, Hui Wang, Shan Liu, Mengwei Liu, Fanxin Zeng, Fangfang Nie, Kai Wang, Wanya
Neurology.2020;[Epub]     CrossRef
Angiographic characteristics in Moyamoya disease with the p.R4810K variant: a propensity score‐matched analysis
P. Ge, Q. Zhang, X. Ye, X. Liu, X. Deng, J. Wang, R. Wang, Y. Zhang, D. Zhang, J. Zhao
European Journal of Neurology.2020; 27(5): 856.     CrossRef
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease
Jana Key, Antonia Maletzko, Aneesha Kohli, Suzana Gispert, Sylvia Torres-Odio, Ilka Wittig, Juliana Heidler, Clea Bárcena, Carlos López-Otín, Yuanjiu Lei, A. Phillip West, Christian Münch, Georg Auburger
neurogenetics.2020; 21(3): 187.     CrossRef
Genetic Risk Factors of Intracranial Atherosclerosis
Minghua Liu, Jose Gutierrez
Current Atherosclerosis Reports.2020;[Epub]     CrossRef
Modifiable Risk Factors Associated With Moyamoya Disease
Peicong Ge, Qian Zhang, Xun Ye, Xingju Liu, Xiaofeng Deng, Jia Wang, Rong Wang, Yan Zhang, Dong Zhang, Jizong Zhao
Stroke.2020; 51(8): 2472.     CrossRef
Different subtypes of collateral vessels in hemorrhagic moyamoya disease with p.R4810K variant
Peicong Ge, Qian Zhang, Xun Ye, Xingju Liu, Xiaofeng Deng, Jia Wang, Rong Wang, Yan Zhang, Dong Zhang, Jizong Zhao
BMC Neurology.2020;[Epub]     CrossRef
Association between bilateral postoperative neoangiogenesis in patients with moyamoya disease
Peicong Ge, Qian Zhang, Xun Ye, Xingju Liu, Xiaofeng Deng, Jia Wang, Rong Wang, Yan Zhang, Dong Zhang, Jizong Zhao
Clinical Neurology and Neurosurgery.2020; 197: 106195.     CrossRef
Identification of Genetic Factors Underlying the Association between Sodium Intake Habits and Hypertension Risk
Yu-Jin Kwon, Jung Oh Kim, Jae-Min Park, Ja-Eun Choi, Da-Hyun Park, Youhyun Song, Seong-Jin Kim, Ji-Won Lee, Kyung-Won Hong
Nutrients.2020; 12(9): 2580.     CrossRef
Familial Risk for Moyamoya Disease Among First-Degree Relatives, Based on a Population-Based Aggregation Study in Korea
Hyeong Sik Ahn, Sayada Zartasha Kazmi, Taeuk Kang, Dong-Sook Kim, Taekyun Ryu, Jae Sang Oh, Hoo Jae Hann, Hyun Jung Kim
Stroke.2020; 51(9): 2752.     CrossRef
Are Genetic Variants Associated with the Location of Cerebral Arterial Lesions in Stroke Patients?
Yeon-Jung Kim, Bum Joon Kim, Min Hwan Lee, Han-Bin Lee, Ji Sung Lee, Dae-il Chang, Smi Choi-Kwon, Sail Chun, Jong-Keuk Lee, Dong-Wha Kang, Sun U. Kwon, Jong S. Kim
Cerebrovascular Diseases.2020; 49(3): 262.     CrossRef
Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism
Won-Hyung Kim, Sang-Dae Kim, Myung-Hyun Nam, Jin-Man Jung, Sung-Won Jin, Sung-Kon Ha, Dong-Jun Lim, Hae-Bin Lee
Child's Nervous System.2019; 35(2): 309.     CrossRef
Hemorrhagic Moyamoya Disease : A Recent Update
Miki Fujimura, Teiji Tominaga
Journal of Korean Neurosurgical Society.2019; 62(2): 136.     CrossRef
Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease
Ryosuke Tashiro, Miki Fujimura, Hiroyuki Sakata, Hidenori Endo, Yasutake Tomata, Mika Sato-Maeda, Kuniyasu Niizuma, Teiji Tominaga
Neurological Research.2019; 41(9): 811.     CrossRef
Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
Peicong Ge, Xun Ye, Xingju Liu, Xiaofeng Deng, Rong Wang, Yan Zhang, Dong Zhang, Qian Zhang, Jizong Zhao
Frontiers in Neurology.2019;[Epub]     CrossRef
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, Hanul Lee, Jong‐Won Chung, Woo‐Keun Seo, Gyeong‐Moon Kim, Chang‐Seok Ki, Yoon‐Chul Kim, Oh Young Bang
Journal of the American Heart Association.2019;[Epub]     CrossRef
Application of Vessel Wall Magnetic Resonance Imaging in Intracranial Cerebrovascular Pathology
Forrest Hamrick, Adam de Havenon, Philipp Taussky, Matthew D. Alexander, J. Scott McNally, Ramesh Grandhi
Journal of Neurosonology and Neuroimaging.2019; 11(2): 105.     CrossRef
Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure
Shan Liu, Mengwei Liu, Qian Li, Xiuping Liu, Yue Wang, Michael Mambiya, Kaili Zhang, Luping Yang, Qian Zhang, Mengke Shang, Fanxin Zeng, Fangfang Nie, Wanyang Liu
Bioscience Reports.2019;[Epub]     CrossRef
Location of cerebral atherosclerosis: Why is there a difference between East and West?
Jong S Kim, Yeon-Jung Kim, Sung-Ho Ahn, Bum J Kim
International Journal of Stroke.2018; 13(1): 35.     CrossRef
Increased serum production of soluble CD163 and CXCL5 in patients with moyamoya disease: Involvement of intrinsic immune reaction in its pathogenesis
Miki Fujimura, Taku Fujimura, Aya Kakizaki, Mika Sato-Maeda, Kuniyasu Niizuma, Yasutake Tomata, Setsuya Aiba, Teiji Tominaga
Brain Research.2018; 1679: 39.     CrossRef
Mitochondrial abnormalities related to the dysfunction of circulating endothelial colony-forming cells in moyamoya disease
Jung Won Choi, Sung Min Son, Inhee Mook-Jung, Youn Joo Moon, Ji Yeoun Lee, Kyu-Chang Wang, Hyun-Seung Kang, Ji Hoon Phi, Seung Ah Choi, Sangjoon Chong, Jayoung Byun, Seung-Ki Kim
Journal of Neurosurgery.2018; 129(5): 1151.     CrossRef
Intracranial Large Artery Disease of Non-Atherosclerotic Origin: Recent Progress and Clinical Implications
Oh Young Bang, Kazunori Toyoda, Juan F. Arenillas, Liping Liu, Jong S. Kim
Journal of Stroke.2018; 20(2): 208.     CrossRef
RNF213 Polymorphism in Intracranial Artery Dissection
Jong S. Kim, Han Bin Lee, Hyuck Sung Kwon
Journal of Stroke.2018; 20(3): 404.     CrossRef
Aberrant Promoter Hypomethylation of Sortilin 1: A Moyamoya Disease Biomarker
Hye Youn Sung, Ji Yeoun Lee, Ae Kyung Park, Youn Joo Moon, Inho Jo, Eun-Mi Park, Kyu-Chang Wang, Ji Hoon Phi, Jung-Hyuck Ahn, Seung-Ki Kim
Journal of Stroke.2018; 20(3): 350.     CrossRef
De Novo Development of Moyamoya Disease in an Adult Female with a Genetic Variant of the RNF-213 Gene: Case Report
Ryosuke Tashiro, Miki Fujimura, Kuniyasu Niizuma, Hidenori Endo, Hiroyuki Sakata, Mika Sato-Maeda, Teiji Tominaga
Journal of Stroke and Cerebrovascular Diseases.2017; 26(1): e8.     CrossRef
Integrated Analysis of LncRNA-mRNA Co-Expression Profiles in Patients with Moyamoya Disease
Wen Wang, Faliang Gao, Zheng Zhao, Haoyuan Wang, Lu Zhang, Dong Zhang, Yan Zhang, Qing Lan, Jiangfei Wang, Jizong Zhao
Scientific Reports.2017;[Epub]     CrossRef
Inherited and Uncommon Causes of Stroke
Jennifer Juhl Majersik
CONTINUUM: Lifelong Learning in Neurology.2017; 23(1): 211.     CrossRef
RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans
Min-Gyu Park, Jin-Hong Shin, Sang Weon Lee, Hae Rim Park, Kyung-Pil Park
Journal of the Neurological Sciences.2017; 375: 331.     CrossRef
Incidence, clinical features, and treatment of familial moyamoya in pediatric patients: a single-institution series
Jonathan Gaillard, Jennifer Klein, Daniel Duran, Armide Storey, R. Michael Scott, Kristopher Kahle, Edward R. Smith
Journal of Neurosurgery: Pediatrics.2017; 19(5): 553.     CrossRef
Pediatric arterial ischemic stroke: Epidemiology, risk factors, and management
Ryan J. Felling, Lisa R. Sun, Emily C. Maxwell, Neil Goldenberg, Timothy Bernard
Blood Cells, Molecules, and Diseases.2017; 67: 23.     CrossRef
Transient Global Cerebral Ischemia Induces RNF213 , a Moyamoya Disease Susceptibility Gene, in Vulnerable Neurons of the Rat Hippocampus CA1 Subregion and Ischemic Cortex
Mika Sato-Maeda, Miki Fujimura, Sherif Rashad, Yuiko Morita-Fujimura, Kuniyasu Niizuma, Hiroyuki Sakata, Shuntaro Ikawa, Teiji Tominaga
Journal of Stroke and Cerebrovascular Diseases.2017; 26(9): 1904.     CrossRef
Neuroinflammation in Ischemic Pediatric Stroke
Maja Steinlin
Seminars in Pediatric Neurology.2017; 24(3): 201.     CrossRef
Intracranial Atherosclerosis: Where Are We Now?
Jong S. Kim
Journal of Stroke.2017; 19(3): 247.     CrossRef
Migrainomics — identifying brain and genetic markers of migraine
Dale R. Nyholt, David Borsook, Lyn R. Griffiths
Nature Reviews Neurology.2017; 13(12): 725.     CrossRef
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea
Young Park, Hui An, Jung Kim, Won Kim, In Han, Ok Kim, Nam Kim, Dong-Seok Kim
International Journal of Molecular Sciences.2017; 18(11): 2477.     CrossRef
Experiências e sentimentos de mães diante da doença de Moyamoya de seus filhos
Daniela Bravalhieri da SILVA, Paula de Marchi Scarpin HAGEMANN, Camila PEREIRA, Carmen Maria Bueno NEME
Estudos de Psicologia (Campinas).2017; 34(4): 523.     CrossRef
DOWN SYNDROME WITH MOYAMOYA SYNDROME
Mohan Makwana, Vishnoi R.K, Jai Prakash Soni, Kapil Jetha, Suresh Kumar Verma, Pradeep Singh Rathore, Monika Choudhary
Journal of Evidence Based Medicine and Healthcare.2017; 4(29): 1735.     CrossRef
Transient middle cerebral artery occlusion in mice induces neuronal expression of RNF213, a susceptibility gene for moyamoya disease
Mika Sato-Maeda, Miki Fujimura, Atsushi Kanoke, Yuiko Morita-Fujimura, Kuniyasu Niizuma, Teiji Tominaga
Brain Research.2016; 1630: 50.     CrossRef
A new horizon of moyamoya disease and associated health risks explored through RNF213
Akio Koizumi, Hatasu Kobayashi, Toshiaki Hitomi, Kouji H. Harada, Toshiyuki Habu, Shohab Youssefian
Environmental Health and Preventive Medicine.2016; 21(2): 55.     CrossRef
Moyamoya Disease: Treatment and Outcomes
Tackeun Kim, Chang Wan Oh, Jae Seung Bang, Jeong Eun Kim, Won-Sang Cho
Journal of Stroke.2016; 18(1): 21.     CrossRef
The Pathophysiology of Moyamoya Disease: An Update
Oh Young Bang, Miki Fujimura, Seung-Ki Kim
Journal of Stroke.2016; 18(1): 12.     CrossRef
Genetic susceptibility to cerebrovascular disease
David Della-Morte, Francesca Pacifici, Tatjana Rundek
Current Opinion in Lipidology.2016; 27(2): 187.     CrossRef
Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease
Atsushi Kanoke, Miki Fujimura, Kuniyasu Niizuma, Taku Fujimura, Aya Kakizaki, Akira Ito, Hiroyuki Sakata, Mika Sato-Maeda, Shigeo Kure, Teiji Tominaga
Brain Research.2016; 1642: 1.     CrossRef
Considerations When Subtyping Ischemic Stroke in Asian Patients
Oh Young Bang
Journal of Clinical Neurology.2016; 12(2): 129.     CrossRef
Clinical manifestations of the onset and diagnostic problems in children with moyamoya disease
O. A. Lvova, I. V. Jevneronok, L. V. Shalkevich, T. S. Prusakova
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2016; 116(1): 10.     CrossRef
Long-term follow-up of pediatric moyamoya disease treated by combined direct–indirect revascularization surgery: single institute experience with surgical and perioperative management
Sherif Rashad, Miki Fujimura, Kuniyasu Niizuma, Hidenori Endo, Teiji Tominaga
Neurosurgical Review.2016; 39(4): 615.     CrossRef
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte, Tobias Kurth, Andres Ingason, George McMahon, Lannie Ligthart, Gisela M Terwindt, Mikko Kallela,
Nature Genetics.2016; 48(8): 856.     CrossRef
A Recent Update of Clinical and Research Topics Concerning Adult Moyamoya Disease
Jin Pyeong Jeon, Jeong Eun Kim
Journal of Korean Neurosurgical Society.2016; 59(6): 537.     CrossRef
A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis
Oh Young Bang, Jong-Won Chung, Jihoon Cha, Mi Ji Lee, Je Young Yeon, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong, Xiao-Feng Yang
PLOS ONE.2016; 11(6): e0156607.     CrossRef
Caveolin-1, Ring finger protein 213, and endothelial function in Moyamoya disease
Oh Young Bang, Jong-Won Chung, Suk Jae Kim, Mi Jeong Oh, Soo Yoon Kim, Yeon Hee Cho, Jihoon Cha, Je Young Yeon, Keon Ha Kim, Gyeong-Moon Kim, Chin-Sang Chung, Kwang Ho Lee, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong, Gyeong Joon Moon
International Journal of Stroke.2016; 11(9): 999.     CrossRef
Nonatheroscleotic Isolated Middle Cerebral Artery Disease May Be Early Manifestation of Moyamoya Disease
Yeon-Jung Kim, Joo Kyung Lee, Sung-Ho Ahn, Bum Joon Kim, Dong-Wha Kang, Jong S. Kim, Sun U. Kwon
Stroke.2016; 47(9): 2229.     CrossRef
Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing
Lorelei D Shoemaker, Michael J Clark, Anil Patwardhan, Gemma Chandratillake, Sarah Garcia, Rong Chen, Alexander A Morgan, Nan Leng, Scott Kirk, Richard Chen, Douglas J Cook, Michael Snyder, Gary K Steinberg
G3 Genes|Genomes|Genetics.2016; 6(1): 41.     CrossRef
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Tamar Harel, Jennifer E. Posey, Brett H. Graham, Magdalena Walkiewicz, Yaping Yang, Seema R. Lalani, John W. Belmont
American Journal of Medical Genetics Part A.2015; 167(11): 2742.     CrossRef
Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia
Soto Romuald Kiando, Cristina Barlassina, Daniele Cusi, Pilar Galan, Mark Lathrop, Pierre-François Plouin, Xavier Jeunemaitre, Nabila Bouatia-Naji
Journal of Hypertension.2015; 33(9): 1802.     CrossRef
Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213
Takeshi Inoue, Nobuyuki Murakami, Satoru Sakadume, Yasuhiro Kido, Astuo Kikuchi, Natsuko Ichinoi, Kensuke Suzuki, Shigeo Kure, Ryoichi Sakuta
Pediatrics International.2015; 57(4): 798.     CrossRef
Maladie de Moyamoya : aspects diagnostiques, cliniques, évolutifs et thérapeutiques chez 10 patients
C. Blanc, S. Janoura, C. Pallot, L. Mettey, F. Bardin, F. Ricolfi, A. Chavent, G.-V. Osseby, M. Giroud, Y. Béjot
Revue Neurologique.2015; 171(1): 58.     CrossRef
Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213 , the susceptibility gene for moyamoya disease
Atsushi Kanoke, Miki Fujimura, Kuniyasu Niizuma, Akira Ito, Hiroyuki Sakata, Mika Sato-Maeda, Yuiko Morita-Fujimura, Shigeo Kure, Teiji Tominaga
Brain Research.2015; 1624: 497.     CrossRef
Vessel Wall Imaging of the Intracranial and Cervical Carotid Arteries
Young Jun Choi, Seung Chai Jung, Deok Hee Lee
Journal of Stroke.2015; 17(3): 238.     CrossRef
Moyamoya angiopathy – Is there a Western phenotype?
Pennylouise Hever, Alexander Alamri, Christos Tolias
British Journal of Neurosurgery.2015; 29(6): 765.     CrossRef
Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?
Oh Young Bang, Sookyung Ryoo, Suk Jae Kim, Chang Hyo Yoon, Jihoon Cha, Je Young Yeon, Keon Ha Kim, Gyeong-Moon Kim, Chin-Sang Chung, Kwang Ho Lee, Hyung Jin Shin, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong, Jean-Claude Baron
PLOS ONE.2015; 10(6): e0130663.     CrossRef
Isolated MCA Disease in Patients Without Significant Atherosclerotic Risk Factors
Sung-Ho Ahn, Jookyung Lee, Yeon-Jung Kim, Sun U. Kwon, Deokhee Lee, Seung-Chai Jung, Dong-Wha Kang, Jong S. Kim
Stroke.2015; 46(3): 697.     CrossRef
Research on Intracranial Atherosclerosis from the East and West: Why Are the Results Different?
Jong S. Kim, David Bonovich
Journal of Stroke.2014; 16(3): 105.     CrossRef
Increased vascular MMP-9 in mice lacking RNF213
Shinya Sonobe, Miki Fujimura, Kuniyasu Niizuma, Taku Fujimura, Sadanori Furudate, Yasuo Nishijima, Shigeo Kure, Teiji Tominaga
NeuroReport.2014; 25(18): 1442.     CrossRef