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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.
Management of apnea in infants with trisomy 18.
Taira R, Inoue H, Sawano T, Fujiyoshi J, Ichimiya Y, Torio M, Sanefuji M, Ochiai M, Sakai Y, Ohga S. Taira R, et al. Among authors: torio m. Dev Med Child Neurol. 2020 Jul;62(7):874-878. doi: 10.1111/dmcn.14403. Epub 2019 Nov 25. Dev Med Child Neurol. 2020. PMID: 31763690 Free article.
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: torio m. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
43 results