Osaka H - Search Results

1

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. Kato M, et al. Among authors: osaka h. Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. Neurology. 2014. PMID: 24706016

2

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

Inoue K, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K. Inoue K, et al. Among authors: osaka h. Neurology. 1997 Jan;48(1):283-5. doi: 10.1212/wnl.48.1.283. Neurology. 1997. PMID: 9008538

3

Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.

Osaka H, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S. Osaka H, et al. Ann Neurol. 1999 Jan;45(1):59-64. doi: 10.1002/1531-8249(199901)45:1<59::aid-art11>3.0.co;2-3. Ann Neurol. 1999. PMID: 9894878

4

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

5

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

6

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.

Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K. Tohyama J, et al. Among authors: osaka h. Brain Dev. 2008 May;30(5):349-55. doi: 10.1016/j.braindev.2007.10.006. Epub 2007 Dec 11. Brain Dev. 2008. PMID: 18065176

7

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: osaka h. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469812

8

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.

9

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: osaka h. Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493457 Free PMC article.

10

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Osaka H, et al. Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022. Ann Neurol. 2010. PMID: 20695017

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

353 results

Search Page

Filters