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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: nishiyama k. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
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: nishiyama k. 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.
Reappraising newborn screening for cobalamin C disorder.
Tocan V, Ohkubo K, Higashi K, Toda N, Kojima-Ishii K, Nishiyama K, Ishimura M, Takada H, Sakamoto O, Sasaki F, Yoshimura K, Hirose S, Ohga S. Tocan V, et al. Among authors: nishiyama k. Pediatr Neonatol. 2018 Aug;59(4):415-417. doi: 10.1016/j.pedneo.2017.11.002. Epub 2017 Nov 22. Pediatr Neonatol. 2018. PMID: 29198615 Free article. No abstract available.
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: nishiyama k. 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.
1,688 results