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1,754 results

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Page 1
Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly.
Uematsu M, Haginoya K, Togashi N, Hino-Fukuyo N, Nakayama T, Kikuchi A, Abe Y, Wakusawa K, Matsumoto Y, Kakisaka Y, Kobayashi T, Hirose M, Yokoyama H, Iinuma K, Iwasaki M, Nakasato N, Kaneta T, Akasaka M, Kamei A, Tsuchiya S. Uematsu M, et al. Among authors: kikuchi a. Epilepsy Res. 2010 Dec;92(2-3):201-8. doi: 10.1016/j.eplepsyres.2010.09.010. Epub 2010 Oct 20. Epilepsy Res. 2010. PMID: 20965696
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: kikuchi 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
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: kikuchi a. 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
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
Kakisaka Y, Haginoya K, Takahashi Y, Ochiai T, Fujiwara I, Kikuchi A, Wakusawa K, Kobayashi S, Kikuchi H, Ichihara Y, Takahashi S, Nishino I. Kakisaka Y, et al. Among authors: kikuchi a, kikuchi h. Am J Med Genet A. 2013 Jan;161A(1):234-5. doi: 10.1002/ajmg.a.35678. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239586 No abstract available.
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. Nakayama T, et al. Among authors: kikuchi a. Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958593
1,754 results