Wada T - Search Results

1

The ATRX splicing variant c.21-1G>A is asymptomatic.

Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. Kojima K, et al. Among authors: wada t. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. Hum Genome Var. 2022. PMID: 36104326 Free PMC article.

2

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.

Shimbo H, Ninomiya S, Kurosawa K, Wada T. Shimbo H, et al. Among authors: wada t. J Hum Genet. 2014 Jul;59(7):408-10. doi: 10.1038/jhg.2014.45. Epub 2014 Jun 5. J Hum Genet. 2014. PMID: 24898829

3

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N. Nishimura-Tadaki A, et al. Among authors: wada t. J Hum Genet. 2011 Feb;56(2):156-60. doi: 10.1038/jhg.2010.155. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150920

4

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

Wada T, Shimbo H, Osaka H. Wada T, et al. Amino Acids. 2012 Aug;43(2):993-7. doi: 10.1007/s00726-011-1146-1. Epub 2011 Nov 13. Amino Acids. 2012. PMID: 22080216

5

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

Osaka H, Takagi A, Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Toshihiro S, Kuhara T, Matsumoto N. Osaka H, et al. Among authors: wada t. Mol Genet Metab. 2012 May;106(1):43-7. doi: 10.1016/j.ymgme.2012.02.018. Epub 2012 Mar 5. Mol Genet Metab. 2012. PMID: 22472424

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. Pediatr Int. 2015 Apr;57(2):324-6. doi: 10.1111/ped.12613. Pediatr Int. 2015. PMID: 25868953 Free article.

7

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H. Miyatake S, et al. Among authors: wada t. Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21. Neurology. 2014. PMID: 24850488

8

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: wada t. Epilepsia. 2010 Dec;51(12):2397-405. doi: 10.1111/j.1528-1167.2010.02728.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 20887364 Free article.

9

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: wada t. 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

10

Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts.

Uemura T, Ito S, Masuda T, Shimbo H, Goto T, Osaka H, Wada T, Couraud PO, Ohtsuki S. Uemura T, et al. Among authors: wada t. Pharm Res. 2020 Mar 2;37(3):61. doi: 10.1007/s11095-020-2779-0. Pharm Res. 2020. PMID: 32124083

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