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Page 1
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K. Nabatame S, et al. J Neurol Sci. 2023 Apr 15;447:120597. doi: 10.1016/j.jns.2023.120597. Epub 2023 Mar 2. J Neurol Sci. 2023. PMID: 36965413 Free article.
[Introductory remarks].
Nabatame S, Mizushima N. Nabatame S, et al. No To Hattatsu. 2016 May;48(3):174-6. No To Hattatsu. 2016. PMID: 27349078 Japanese. No abstract available.
Sleep disordered breathing in childhood-onset acid maltase deficiency.
Nabatame S, Taniike M, Sakai N, Kato-Nishimura K, Mohri I, Kagitani-Shimono K, Okinaga T, Tachibana N, Ozono K. Nabatame S, et al. Brain Dev. 2009 Mar;31(3):234-9. doi: 10.1016/j.braindev.2008.03.007. Epub 2008 May 21. Brain Dev. 2009. PMID: 18495398
Neuroradiologic features of CASK mutations.
Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ. Takanashi J, et al. Among authors: nabatame s. AJNR Am J Neuroradiol. 2010 Oct;31(9):1619-22. doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1. AJNR Am J Neuroradiol. 2010. PMID: 20595373 Free PMC article.
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y. Niihori T, et al. Among authors: nabatame s. J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18. J Hum Genet. 2011. PMID: 21850009
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N, Kagitani-Shimono K, Sakai N, Otomo T, Tominaga K, Nabatame S, Mogami Y, Takahashi Y, Imai K, Yanagihara K, Okinaga T, Nagai T, Taniike M, Ozono K. Hashimoto N, et al. Among authors: nabatame s. J Hum Genet. 2011 Dec;56(12):846-51. doi: 10.1038/jhg.2011.115. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011817
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K. Kimura-Ohba S, et al. Among authors: nabatame s. Am J Med Genet A. 2013 Jan;161A(1):203-7. doi: 10.1002/ajmg.a.35686. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239615
54 results