Osaka H - Search Results

1

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K. Numata-Uematsu Y, et al. Among authors: osaka h. Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522618 Free PMC article.

2

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.

3

Proton MR spectroscopy in Pelizaeus-Merzbacher disease.

Takanashi J, Sugita K, Osaka H, Ishii M, Niimi H. Takanashi J, et al. Among authors: osaka h. AJNR Am J Neuroradiol. 1997 Mar;18(3):533-5. AJNR Am J Neuroradiol. 1997. PMID: 9090417 Free PMC article.

4

MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication.

Takanashi J, Sugita K, Tanabe Y, Nagasawa K, Inoue K, Osaka H, Kohno Y. Takanashi J, et al. Among authors: osaka h. AJNR Am J Neuroradiol. 1999 Nov-Dec;20(10):1822-8. AJNR Am J Neuroradiol. 1999. PMID: 10588103 Free PMC article.

5

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

6

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia.

Tsuyusaki Y, Shimbo H, Wada T, Iai M, Tsuji M, Yamashita S, Aida N, Kure S, Osaka H. Tsuyusaki Y, et al. Among authors: osaka h. Brain Dev. 2012 Jan;34(1):72-5. doi: 10.1016/j.braindev.2011.01.005. Epub 2011 Feb 12. Brain Dev. 2012. PMID: 21316884

7

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N. Tsurusaki Y, et al. Among authors: osaka h. J Med Genet. 2011 Sep;48(9):606-9. doi: 10.1136/jmg.2010.083535. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415082

8

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Saitsu H, et al. Among authors: osaka h. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27. Am J Hum Genet. 2011. PMID: 22036171 Free PMC article.

9

[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].

Inoue K, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H. Inoue K, et al. Among authors: osaka h. No To Hattatsu. 2011 Nov;43(6):435-42. No To Hattatsu. 2011. PMID: 22180957 Review. Japanese.

10

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H. Tanigawa J, et al. Among authors: osaka h. Brain Dev. 2012 Nov;34(10):861-5. doi: 10.1016/j.braindev.2012.02.007. Epub 2012 Mar 10. Brain Dev. 2012. PMID: 22410471

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