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Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate.
Tetsuhara K, Akamine S, Matsubara Y, Fujii S, Kashimada W, Marutani K, Torio M, Morooka Y, Hanaoka N, Fujimoto T, Nakamura-Miwa H, Arai S, Tanaka-Taya K, Furuno K, Mizuno Y, Kira R. Tetsuhara K, et al. Among authors: torio m. Brain Dev. 2022 Nov;44(10):743-747. doi: 10.1016/j.braindev.2022.06.010. Epub 2022 Jul 12. Brain Dev. 2022. PMID: 35835638 Free PMC article.
Decision-making dilemmas of paediatricians: a qualitative study in Japan.
Sasazuki M, Sakai Y, Kira R, Toda N, Ichimiya Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Narama M, Itai K, Hara T, Takada H, Kizawa Y, Ohga S. Sasazuki M, et al. Among authors: torio m. BMJ Open. 2019 Aug 19;9(8):e026579. doi: 10.1136/bmjopen-2018-026579. BMJ Open. 2019. PMID: 31431444 Free PMC article.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: torio m. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. Kanemasa H, et al. Among authors: torio m. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
Sustained endocrine profiles of a girl with WAGR syndrome.
Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Takada Y, et al. Among authors: torio m. BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5. BMC Med Genet. 2017. PMID: 29061165 Free PMC article.
43 results