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Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: monden y. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T. Sakamoto S, et al. Among authors: monden y. Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6. Brain Dev. 2017. PMID: 27916449
Regional differences in infant 25-Hydroxyvitamin D: Pilot study of the Japan Environment and Children's Study.
Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Mise N, Kayama F, Saito H, Ohya Y. Ayabe T, et al. Among authors: monden y. Pediatr Int. 2018 Jan;60(1):30-34. doi: 10.1111/ped.13410. Epub 2017 Nov 24. Pediatr Int. 2018. PMID: 28833908
430 results