Takano K - Search Results

1

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: takano k. 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

2

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: takano k. 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

3

A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.

Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H. Ohshiro-Sasaki A, et al. Among authors: takano k. Pediatr Neurol. 2014 Jan;50(1):99-100. doi: 10.1016/j.pediatrneurol.2013.09.002. Epub 2013 Nov 5. Pediatr Neurol. 2014. PMID: 24200040

4

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. 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

5

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: takano k. J Hum Genet. 2014 Aug;59(8):471-4. doi: 10.1038/jhg.2014.51. Epub 2014 Jun 26. J Hum Genet. 2014. PMID: 24965255

6

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H. Wada T, et al. Among authors: takano k. Pediatr Int. 2015 Apr;57(2):324-6. doi: 10.1111/ped.12613. Pediatr Int. 2015. PMID: 25868953 Free article.

7

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Shimbo H, Takagi M, Okuda M, Tsuyusaki Y, Takano K, Iai M, Yamashita S, Murayama K, Ohtake A, Goto YI, Aida N, Osaka H. Shimbo H, et al. Among authors: takano k. Mol Genet Metab Rep. 2014 Apr 1;1:133-138. doi: 10.1016/j.ymgmr.2014.02.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896082 Free PMC article.

8

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: takano k. 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

9

Idiopathic cranial polyneuropathy with unilateral IX and X and contralateral XI nerve palsy in a 4-year-old boy.

Yoshihara N, Okuda M, Takano K, Wada T, Osaka H. Yoshihara N, et al. Among authors: takano k. Pediatr Neurol. 2012 Sep;47(3):198-200. doi: 10.1016/j.pediatrneurol.2012.04.021. Pediatr Neurol. 2012. PMID: 22883285

10

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: takano k. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.

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