Shimbo H - Search Results

1

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA^Met gene.

Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H. Kuwajima M, et al. Among authors: shimbo h. Brain Dev. 2019 May;41(5):465-469. doi: 10.1016/j.braindev.2019.01.006. Epub 2019 Feb 7. Brain Dev. 2019. PMID: 30739820

2

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: shimbo h. 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

3

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T. Ikeda T, et al. Among authors: shimbo h. Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018. Hum Genome Var. 2018. PMID: 30210801 Free PMC article.

4

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: shimbo h. 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

5

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: shimbo 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

6

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: shimbo 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

7

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: shimbo h. 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

8

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: shimbo h. 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

9

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K, Yoshinaga H. Akiyama T, et al. Among authors: shimbo h. Brain Dev. 2016 Oct;38(9):871-4. doi: 10.1016/j.braindev.2016.03.008. Epub 2016 Apr 4. Brain Dev. 2016. PMID: 27056292

10

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.

Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H. Kato H, et al. Among authors: shimbo h. Brain Dev. 2014 Aug;36(7):630-3. doi: 10.1016/j.braindev.2013.08.004. Epub 2013 Sep 14. Brain Dev. 2014. PMID: 24045174

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