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A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T. Sakamoto S, et al. Among authors: miyauchi a. Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6. Brain Dev. 2017. PMID: 27916449
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Tsuchida N, et al. Among authors: miyauchi a. Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18. Clin Genet. 2018. PMID: 28556953
Miglustat therapy in a case of early-infantile Niemann-Pick type C.
Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H. Usui M, et al. Among authors: miyauchi a. Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3. Brain Dev. 2017. PMID: 28587793
963 results