Yamashita S - Search Results

1

Aggregate formation analysis of GFAP^R416W found in one case of Alexander disease.

Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H. Tulyeu J, et al. Among authors: yamashita s. Brain Dev. 2019 Feb;41(2):195-200. doi: 10.1016/j.braindev.2018.08.009. Epub 2018 Sep 10. Brain Dev. 2019. PMID: 30213442

2

[A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis].

Wakabayashi K, Lai M, Masuko K, Yamashita S, Yamada M, Iwamoto H, Aida N, Shiroma N, Kanazawa N, Tsujino S. Wakabayashi K, et al. Among authors: yamashita s. No To Hattatsu. 2005 Jan;37(1):55-9. No To Hattatsu. 2005. PMID: 15675360 Review. Japanese.

3

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: yamashita s. 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

4

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: yamashita s. 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

5

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.

Tamaura M, Shimbo H, Iai M, Yamashita S, Osaka H. Tamaura M, et al. Among authors: yamashita s. Brain Dev. 2015 Apr;37(4):442-5. doi: 10.1016/j.braindev.2014.07.008. Epub 2014 Aug 7. Brain Dev. 2015. PMID: 25123644

6

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H. Takano K, et al. Among authors: yamashita s. Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. Epub 2014 Oct 27. Brain Dev. 2015. PMID: 25457085

7

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K. Omata T, et al. Among authors: yamashita s. Brain Dev. 2016 Jun;38(6):581-4. doi: 10.1016/j.braindev.2015.12.002. Epub 2015 Dec 22. Brain Dev. 2016. PMID: 26725305

8

Japanese Leigh syndrome case treated with EPI-743.

Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, Murayama K, Klein MB, Miller G, Goto T, Osaka H. Kouga T, et al. Among authors: yamashita s. Brain Dev. 2018 Feb;40(2):145-149. doi: 10.1016/j.braindev.2017.08.005. Epub 2017 Sep 12. Brain Dev. 2018. PMID: 28916229

9

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.

Osaka H, Koizume S, Aoyama H, Iwamoto H, Kimura S, Nagai J, Kurosawa K, Yamashita S. Osaka H, et al. Among authors: yamashita s. Brain Dev. 2010 Oct;32(9):703-7. doi: 10.1016/j.braindev.2009.11.004. Epub 2009 Dec 21. Brain Dev. 2010. PMID: 20022439

10

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. Among authors: yamashita s. 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

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