Ishizaki Y - Search Results

1

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K. Kijima K, et al. Among authors: ishizaki y. Hum Genet. 2005 Jan;116(1-2):23-7. doi: 10.1007/s00439-004-1199-2. Epub 2004 Nov 11. Hum Genet. 2005. PMID: 15549395

2

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.

Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. Sakai Y, et al. Among authors: ishizaki y. Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157. Ann Hum Genet. 2016. PMID: 27346735

3

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis.

Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K, Sakai Y, Sanefuji M, Pipo-Deveza JR, Silao CL, Sanchez BC, Lukban MB, Salonga AM, Hara T. Ishizaki Y, et al. Hum Genet. 2010 Apr;127(4):411-9. doi: 10.1007/s00439-009-0781-z. Hum Genet. 2010. PMID: 20066438

4

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

Torisu H, Watanabe K, Shimojima K, Sugawara M, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T. Torisu H, et al. Among authors: ishizaki y. Brain Dev. 2014 Apr;36(4):342-5. doi: 10.1016/j.braindev.2013.05.009. Epub 2013 Jun 12. Brain Dev. 2014. PMID: 23768507

5

Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis.

Ishizaki Y, Takemoto M, Kira R, Kusuhara K, Torisu H, Sakai Y, Sanefuji M, Yukaya N, Hara T. Ishizaki Y, et al. J Neurovirol. 2008 Nov;14(6):486-91. doi: 10.1080/13550280802298120. J Neurovirol. 2008. PMID: 19016379

6

Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies.

Ishizaki Y, Kira R, Fukuda M, Torisu H, Sakai Y, Sanefuji M, Yukaya N, Hara T. Ishizaki Y, et al. Epilepsia. 2009 Apr;50(4):761-7. doi: 10.1111/j.1528-1167.2008.01861.x. Epub 2008 Dec 4. Epilepsia. 2009. PMID: 19055487 Free article.

7

Genetic susceptibility to febrile seizures: case-control association studies.

Kira R, Ishizaki Y, Torisu H, Sanefuji M, Takemoto M, Sakamoto K, Matsumoto S, Yamaguchi Y, Yukaya N, Sakai Y, Gondo K, Hara T. Kira R, et al. Among authors: ishizaki y. Brain Dev. 2010 Jan;32(1):57-63. doi: 10.1016/j.braindev.2009.09.018. Epub 2009 Oct 23. Brain Dev. 2010. PMID: 19854014

8

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Sakai Y, et al. Among authors: ishizaki y. Eur J Med Genet. 2013 Sep;56(9):475-83. doi: 10.1016/j.ejmg.2013.06.009. Epub 2013 Jul 5. Eur J Med Genet. 2013. PMID: 23832106

9

Strategy in short-term memory for pictures in childhood: a near-infrared spectroscopy study.

Sanefuji M, Takada Y, Kimura N, Torisu H, Kira R, Ishizaki Y, Hara T. Sanefuji M, et al. Among authors: ishizaki y. Neuroimage. 2011 Feb 1;54(3):2394-400. doi: 10.1016/j.neuroimage.2010.09.090. Epub 2010 Oct 16. Neuroimage. 2011. PMID: 20937395 Free article.

10

Parental age and child growth and development: child health check-up data.

Iwayama M, Kira R, Kinukawa N, Sakai Y, Torisu H, Sanefuji M, Ishizaki Y, Nose Y, Matsumoto T, Hara T. Iwayama M, et al. Among authors: ishizaki y. Pediatr Int. 2011 Oct;53(5):709-714. doi: 10.1111/j.1442-200X.2011.03331.x. Pediatr Int. 2011. PMID: 21342351

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