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De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N. Kodera H, et al. Among authors: kure s. Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344. Epub 2016 Feb 25. Epilepsia. 2016. PMID: 26918889 Free article.
Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion.
Kakisaka Y, Haginoya K, Togashi N, Kitamiura T, Uematsu M, Hino-Fukuyo N, Kure S, Saito J, Kitaoka S, Watanabe S, Yoshikawa H, Nara T, Suzuki Y, Tsuchiya S. Kakisaka Y, et al. Among authors: kure s. Tohoku J Exp Med. 2007 Mar;211(3):303-8. doi: 10.1620/tjem.211.303. Tohoku J Exp Med. 2007. PMID: 17347557 Free article.
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: kure s. 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
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S. Wang JW, et al. Among authors: kure s. Epilepsia. 2008 Sep;49(9):1528-34. doi: 10.1111/j.1528-1167.2008.01609.x. Epub 2008 Apr 21. Epilepsia. 2008. PMID: 18479393 Free article.
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.
Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S. Uematsu M, et al. Among authors: kure s. J Neurol Sci. 2012 Apr 15;315(1-2):77-81. doi: 10.1016/j.jns.2011.11.025. Epub 2011 Dec 12. J Neurol Sci. 2012. PMID: 22166853
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. Among authors: kure s. 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.
471 results