Tsurusaki Y - Search Results

1

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K. Nishimura N, et al. Among authors: tsurusaki y. Brain Dev. 2020 Oct;42(9):639-645. doi: 10.1016/j.braindev.2020.05.009. Epub 2020 Jun 19. Brain Dev. 2020. PMID: 32565002

2

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. 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

3

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Brain Dev. 2012 May;34(5):364-7. doi: 10.1016/j.braindev.2011.07.004. Epub 2011 Jul 28. Brain Dev. 2012. PMID: 21802232

4

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

5

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: tsurusaki y. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343

6

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H. Nakamura K, et al. Among authors: tsurusaki y. Brain Dev. 2014 Mar;36(3):272-3. doi: 10.1016/j.braindev.2013.03.007. Epub 2013 Apr 25. Brain Dev. 2014. PMID: 23623288 No abstract available.

7

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Among authors: tsurusaki y. Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4. Neurogenetics. 2013. PMID: 24091540

8

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: tsurusaki y. 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

9

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: tsurusaki y. 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

10

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N. Kodera H, et al. Among authors: tsurusaki y. J Hum Genet. 2015 Feb;60(2):97-101. doi: 10.1038/jhg.2014.103. Epub 2014 Dec 4. J Hum Genet. 2015. PMID: 25471517

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