Genotype–Phenotype Correlation of the <I>RNF213</I> R4810K Variant in Moyamoya Disease

참고문헌 (10)

1. 방오영, "The Pathophysiology of Moyamoya Disease: An Update", 대한뇌졸중영문학회지, 18(1), pp.12~20 (2016), 대한뇌졸중학회
2. Liu W, "Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development", PLoS One, 6, pp.e22542~ (2011)
3. Kim EH, "Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease", J Neurosurg, 124, pp.1221~1227 (2016)
4. Miyatake S, "Homozygous c.14576G>A variant of RNF213predicts early-onset and severe form of moyamoya disease", Neurology, 78, pp.803~810 (2012)
5. Jong S. Kim, "Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis", 대한뇌졸중영문학회지, 18(1), pp.2~11 (2016), 대한뇌졸중학회
6. Ge P, "Association between p. R4810K variant and long-term clinical outcome in patients with moyamoya disease", Front Neurol, 10, pp.662~ (2019)
7. Nomura S, "Genotype-phenotype correlation in longterm cohort of Japanese patients with moyamoya disease", Cerebrovasc Dis, 47, pp.105~111 (2019)
8. Kim WH, "Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism", Childs Nerv Syst, 35, pp.309~314 (2019)
9. Kawabori M, "Impact of RNF213 c.14576G>A variant on the development of direct and indirect revascularization in pediatric moyamoya disease", Cerebrovasc Dis (2022)[DOI]
10. Wen J, "Mutation of rnf213a by TALEN causes abnormal angiogenesis and circulation defects in zebrafish", Brain Res, 1644, pp.70~78 (2016)

관련 논문AI추천