A new horizon of moyamoya disease and associated health risks explored through RNF213Akio Koizumi, Shohab Youssefian, Hatasu Kobayashi et al.|Environmental Health and Preventive Medicine|2015Cited by 131
Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent mannerMidori Takeda, Shohab Youssefian, Tohru Tezuka et al.|Biochemical and Biophysical Research Communications|2020Cited by 58
Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese FamiliesHiroko Okuda, Akio Koizumi, Daiki Kondo et al.|PLoS ONE|2016Cited by 51
Rare variants in <i>RNF213</i>, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia‐induced pulmonary hypertension in miceHatasu Kobayashi, Akio Koizumi, Risako Kabata et al.|Pulmonary Circulation|2018Cited by 48
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease PatientsHatasu Kobayashi, Akio Koizumi, M Brozman et al.|PLoS ONE|2016Cited by 45