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Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Kanno J, et al. Among authors: narisawa a. Mol Genet Metab. 2007 Aug;91(4):384-9. doi: 10.1016/j.ymgme.2007.02.010. Epub 2007 Apr 11. Mol Genet Metab. 2007. PMID: 17433748
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y. Kure S, et al. Among authors: narisawa a. Ann Neurol. 2006 May;59(5):862-7. doi: 10.1002/ana.20853. Ann Neurol. 2006. PMID: 16634033
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Kojima-ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y. Kojima-ishii K, et al. Among authors: narisawa a. Pediatr Res. 2008 Sep;64(3):228-33. doi: 10.1203/PDR.0b013e3181799562. Pediatr Res. 2008. PMID: 18414141
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: narisawa a. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Narisawa A, et al. Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171071 Free PMC article.
41 results