Osaka H - Search Results

1

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: osaka h. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392

2

MvaI polymorphism in the proteolipid protein (PLP) gene.

Osaka H, Inoue K, Kawanishi C, Yamada Y, Onishi H, Sugiyama N, Suzuki K, Nezu A, Kimura S, Kosaka K. Osaka H, et al. Hum Genet. 1995 Apr;95(4):461. doi: 10.1007/BF00208978. Hum Genet. 1995. PMID: 7705847

3

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K. Inoue K, et al. Among authors: osaka h. Am J Hum Genet. 1996 Jul;59(1):32-9. Am J Hum Genet. 1996. PMID: 8659540 Free PMC article.

4

A new restriction-site polymorphism in the human proteolipid protein gene.

Kawanishi C, Osaka H, Inoue K, Onishi H, Yamada Y, Kosaka K. Kawanishi C, et al. Among authors: osaka h. Clin Genet. 1997 Jan;51(1):75. Clin Genet. 1997. PMID: 9084942 No abstract available.

5

An MRI and MRS study of Pelizaeus-Merzbacher disease.

Nezu A, Kimura S, Takeshita S, Osaka H, Kimura K, Inoue K. Nezu A, et al. Among authors: osaka h. Pediatr Neurol. 1998 Apr;18(4):334-7. doi: 10.1016/s0887-8994(97)00212-9. Pediatr Neurol. 1998. PMID: 9588530

6

Magnetic stimulation of the corticospinal tracts in Pelizaeus-Merzbacher disease.

Nezu A, Kimura S, Takeshita S, Osaka H, Tanaka M. Nezu A, et al. Among authors: osaka h. Electroencephalogr Clin Neurophysiol. 1998 Sep;108(5):446-8. doi: 10.1016/s0168-5597(98)00018-5. Electroencephalogr Clin Neurophysiol. 1998. PMID: 9780014

7

A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Matsumura T, Osaka H, Inoue K, Sugiyama N, Onishi H, Yamada Y, Hayashi M, Kosaka K. Matsumura T, et al. Among authors: osaka h. Hum Mutat. 2001;17(1):80. doi: 10.1002/1098-1004(2001)17:1<80::AID-HUMU25>3.0.CO;2-M. Hum Mutat. 2001. PMID: 11139261 No abstract available.

8

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR. Inoue K, et al. Among authors: osaka h. Am J Hum Genet. 2002 Oct;71(4):838-53. doi: 10.1086/342728. Epub 2002 Sep 20. Am J Hum Genet. 2002. PMID: 12297985 Free PMC article.

9

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

10

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

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