Osaka H - Search Results

1

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano SI, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K. Suzuki T, et al. Among authors: osaka h. Sci Rep. 2022 May 17;12(1):6505. doi: 10.1038/s41598-022-10715-w. Sci Rep. 2022. PMID: 35581205 Free PMC article.

2

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K. Osaka H, et al. Epilepsy Res. 2007 Jun;75(1):46-51. doi: 10.1016/j.eplepsyres.2007.03.018. Epub 2007 May 15. Epilepsy Res. 2007. PMID: 17507202

3

Discrepancy between auditory brainstem responses, auditory steady-state responses, and auditory behavior in two patients with Pelizaeus-Merzbacher disease.

Tanaka M, Hamano S, Sakata H, Adachi N, Kaga K, Osaka H, Kurosawa K. Tanaka M, et al. Among authors: osaka h. Auris Nasus Larynx. 2008 Sep;35(3):404-7. doi: 10.1016/j.anl.2007.09.002. Epub 2007 Oct 29. Auris Nasus Larynx. 2008. PMID: 18029128

4

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K. Ogiwara I, et al. Among authors: osaka h. Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc. Neurology. 2009. PMID: 19786696 Free PMC article.

5

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis.

Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M. Muto A, et al. Among authors: osaka h. Brain Dev. 2010 Jun;32(6):445-53. doi: 10.1016/j.braindev.2009.10.004. Epub 2009 Nov 25. Brain Dev. 2010. PMID: 19942389

6

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K. Nakayama T, et al. Among authors: osaka h. Hum Mutat. 2010 Jul;31(7):820-9. doi: 10.1002/humu.21275. Hum Mutat. 2010. PMID: 20506560

7

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.

Sato I, Onuma A, Goto N, Sakai F, Fujiwara I, Uematsu M, Osaka H, Okahashi S, Nonaka I, Tanaka S, Haginoya K. Sato I, et al. Among authors: osaka h. J Neurol Sci. 2011 Jan 15;300(1-2):179-81. doi: 10.1016/j.jns.2010.09.009. Epub 2010 Sep 29. J Neurol Sci. 2011. PMID: 20884016

8

[Three children with Rasmussen encephalitis showing marked improvement in daily life activity following the functional hemispherectomy].

Shioda M, Oguni H, Ito Y, Ochiai T, Hori T, Muto A, Takahashi S, Miyamoto A, Osaka H, Osawa M. Shioda M, et al. Among authors: osaka h. No To Hattatsu. 2011 Sep;43(5):373-7. No To Hattatsu. 2011. PMID: 21941844 Japanese.

9

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: osaka h. Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209246 Free PMC article.

10

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: osaka h. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15. Hum Mutat. 2013. PMID: 24115232

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