Tsuji M - Search Results

1

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: tsuji m. 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

2

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, Gibson KM, Salomons GS, Jakobs C, Osaka H. Tsuji M, et al. J Inherit Metab Dis. 2010 Feb;33(1):85-90. doi: 10.1007/s10545-009-9022-9. Epub 2010 Jan 6. J Inherit Metab Dis. 2010. PMID: 20052547 Free PMC article.

3

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.

Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H. Tsuji M, et al. Brain Dev. 2011 Jun;33(6):521-4. doi: 10.1016/j.braindev.2010.08.013. Epub 2010 Sep 20. Brain Dev. 2011. PMID: 20850942

4

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: tsuji m. 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

5

Acute encephalopathy in a patient with Dravet syndrome.

Tsuji M, Mazaki E, Ogiwara I, Wada T, Iai M, Okumura A, Yamashita S, Yamakawa K, Osaka H. Tsuji M, et al. Neuropediatrics. 2011 Feb;42(2):78-81. doi: 10.1055/s-0031-1279725. Epub 2011 Jun 6. Neuropediatrics. 2011. PMID: 21647847

6

[Clinical characteristics of acute encephalopathies associated with influenza H1N1-2009 in children].

Watanabe Y, Tsuji M, Sameshima K, Wada T, Iai M, Yamashita S, Hayashi T, Aida N, Osaka H. Watanabe Y, et al. Among authors: tsuji m. No To Hattatsu. 2012 Jan;44(1):35-40. No To Hattatsu. 2012. PMID: 22352028 Japanese.

7

[An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide].

Mitani T, Ohtsuka Y, Yamamoto K, Watanabe Y, Tsuji M, Samejima K, Aida N, Sato T, Wada T, Osaka H. Mitani T, et al. Among authors: tsuji m. No To Hattatsu. 2013 Jan;45(1):53-7. No To Hattatsu. 2013. PMID: 23593747 Japanese.

8

Phenotype of GABA-transaminase deficiency.

Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Among authors: tsuji m. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.

9

Discordant phenotype caused by CASK mutation in siblings with NF1.

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Among authors: tsuji m. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.

10

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Ikeda A, et al. Among authors: tsuji m. Epilepsy Behav Rep. 2019 Dec 5;13:100349. doi: 10.1016/j.ebr.2019.100349. eCollection 2020. Epilepsy Behav Rep. 2019. PMID: 31879735 Free PMC article.

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