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Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Shimojima K, et al. Among authors: maruyama k. Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051. Intractable Rare Dis Res. 2016. PMID: 27672545 Free PMC article.
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.
Kurahashi N, Miyake N, Mizuno S, Koshimizu E, Kurahashi H, Yamada K, Natsume J, Aoki Y, Nakamura M, Taniai H, Maki Y, Abe-Hatano C, Matsumoto N, Maruyama K. Kurahashi N, et al. Among authors: maruyama k. Brain Dev. 2017 Sep;39(8):672-677. doi: 10.1016/j.braindev.2017.03.025. Epub 2017 Apr 9. Brain Dev. 2017. PMID: 28404210
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. Hamada N, et al. Among authors: maruyama k. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246. Brain. 2018. PMID: 30256902
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H. Ando M, et al. Among authors: maruyama k. J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. J Peripher Nerv Syst. 2017. PMID: 28660751 Free PMC article.
Is hiragana decoding impaired in children with periventricular leukomalacia?
Kurahashi N, Futamura Y, Nonobe N, Ogaya S, Maki Y, Yoshimura I, Suzuki T, Hosokawa Y, Yamada K, Aso K, Maruyama K, Nakamura M. Kurahashi N, et al. Among authors: maruyama k. Brain Dev. 2018 Nov;40(10):850-856. doi: 10.1016/j.braindev.2018.05.018. Epub 2018 Jun 19. Brain Dev. 2018. PMID: 29908673
2,904 results