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A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E. Misceo D, et al. Among authors: mizobuchi m. Hum Mutat. 2014 May;35(5):556-64. doi: 10.1002/humu.22544. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24619930
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E. Gamage TH, et al. Among authors: mizobuchi m. Cell Calcium. 2020 Jan;85:102110. doi: 10.1016/j.ceca.2019.102110. Epub 2019 Nov 13. Cell Calcium. 2020. PMID: 31785581 Free article.
Intravenous perampanel as an alternative to the oral formulations in Japanese patients with epilepsy.
Hanaya R, Kubota Y, Mizobuchi M, Iida K, Ono T, Motooka H, Nakano N, Fujimoto A, Iwasaki M, Fukuda M, Kondo A, Uruno K, Yamamuro S, Yamaguchi K, Onishi K, Ngo LY, Inoue Y. Hanaya R, et al. Among authors: mizobuchi m. Epilepsia Open. 2023 Dec;8(4):1369-1382. doi: 10.1002/epi4.12804. Epub 2023 Aug 30. Epilepsia Open. 2023. PMID: 37547978 Free PMC article.
Long-Term Effect of Denosumab on Bone Disease in Patients with CKD.
Iseri K, Mizobuchi M, Winzenrieth R, Humbert L, Saitou T, Kato T, Nakajima Y, Wakasa M, Shishido K, Honda H. Iseri K, et al. Among authors: mizobuchi m. Clin J Am Soc Nephrol. 2023 Sep 1;18(9):1195-1203. doi: 10.2215/CJN.0000000000000213. Epub 2023 Jun 14. Clin J Am Soc Nephrol. 2023. PMID: 37314764
222 results