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Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.
Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T. Matsushita Y, et al. Among authors: akamine s. Sci Rep. 2016 Jun 10;6:27164. doi: 10.1038/srep27164. Sci Rep. 2016. PMID: 27282259 Free PMC article. No abstract available.
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: akamine s. 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: akamine s. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.
Ichimiya Y, Kaku N, Sakai Y, Yamashita F, Matsuoka W, Muraoka M, Akamine S, Mizuguchi S, Torio M, Motomura Y, Hirata Y, Ishizaki Y, Sanefuji M, Torisu H, Takada H, Maehara Y, Ohga S. Ichimiya Y, et al. Among authors: akamine s. Brain Dev. 2017 Aug;39(7):621-624. doi: 10.1016/j.braindev.2017.03.023. Epub 2017 Apr 13. Brain Dev. 2017. PMID: 28413125
A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia.
Ohyama N, Torio M, Nakashima K, Koga Y, Kanno S, Nishio H, Nishiyama K, Sasazuki M, Kato H, Asakura H, Akamine S, Sanefuji M, Ishizaki Y, Sakai Y, Ohga S. Ohyama N, et al. Among authors: akamine s. Ann Clin Microbiol Antimicrob. 2017 Sep 18;16(1):61. doi: 10.1186/s12941-017-0240-y. Ann Clin Microbiol Antimicrob. 2017. PMID: 28923072 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: akamine s. 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.
148 results