Takeshita E - Search Results

1

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Among authors: takeshita e. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.

2

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

Takeshita E, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Nezu A, Kitamura J, Itoh M, Sawano Y, Goto Y. Takeshita E, et al. J Neurol Sci. 2011 Sep 15;308(1-2):168-72. doi: 10.1016/j.jns.2011.06.008. Epub 2011 Jun 30. J Neurol Sci. 2011. PMID: 21722922

3

Effect of corpus callosotomy on attention deficit and behavioral problems in pediatric patients with intractable epilepsy.

Yonekawa T, Nakagawa E, Takeshita E, Inoue Y, Inagaki M, Kaga M, Sugai K, Sasaki M, Kaido T, Takahashi A, Otsuki T. Yonekawa T, et al. Among authors: takeshita e. Epilepsy Behav. 2011 Dec;22(4):697-704. doi: 10.1016/j.yebeh.2011.08.027. Epub 2011 Oct 5. Epilepsy Behav. 2011. PMID: 21978470

4

Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy.

Takeshita E, Nakagawa E, Nakatani K, Sasaki M, Goto Y. Takeshita E, et al. Brain Dev. 2012 Oct;34(9):776-9. doi: 10.1016/j.braindev.2011.12.010. Epub 2012 Jan 24. Brain Dev. 2012. PMID: 22269148

5

Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

Saito Y, Aoki Y, Takeshita E, Saito T, Sugai K, Komaki H, Nakagawa E, Ishiyama A, Takanoha S, Wada S, Sasaki M. Saito Y, et al. Among authors: takeshita e. Brain Dev. 2014 Nov;36(10):878-83. doi: 10.1016/j.braindev.2013.12.001. Epub 2013 Dec 18. Brain Dev. 2014. PMID: 24360095

6

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Negishi Y, Hattori A, Takeshita E, Sakai C, Ando N, Ito T, Goto Y, Saitoh S. Negishi Y, et al. Among authors: takeshita e. J Hum Genet. 2014 Jul;59(7):405-7. doi: 10.1038/jhg.2014.41. Epub 2014 May 15. J Hum Genet. 2014. PMID: 24830958

7

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M. Okubo M, et al. Among authors: takeshita e. Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712306

8

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.

Motoki T, Shimizu-Motohashi Y, Komaki H, Mori-Yoshimura M, Oya Y, Takeshita E, Ishiyama A, Saito T, Nakagawa E, Sugai K, Murata M, Sasaki M. Motoki T, et al. Among authors: takeshita e. Neuromuscul Disord. 2015 Oct;25(10):754-7. doi: 10.1016/j.nmd.2015.07.006. Epub 2015 Jul 29. Neuromuscul Disord. 2015. PMID: 26298609

9

The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments.

Kubota K, Shimizu-Motohashi Y, Saito T, Akatsuka S, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sugai K, Sasaki M. Kubota K, et al. Among authors: takeshita e. Brain Dev. 2016 Apr;38(4):392-8. doi: 10.1016/j.braindev.2015.10.005. Epub 2015 Oct 21. Brain Dev. 2016. PMID: 26482602

10

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N. Fujita A, et al. Among authors: takeshita e. Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23. Clin Genet. 2016. PMID: 26919706

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