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1,415 results

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A patient with early-onset SMAX3 and a novel variant of ATP7A.
Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Shibuya M, et al. Among authors: okubo y. Brain Dev. 2022 Jan;44(1):63-67. doi: 10.1016/j.braindev.2021.08.004. Epub 2021 Aug 26. Brain Dev. 2022. PMID: 34456088
Outcome of hemiplegic cerebral palsy born at term depends on its etiology.
Kitai Y, Haginoya K, Hirai S, Ohmura K, Ogura K, Inui T, Endo W, Okubo Y, Anzai M, Takezawa Y, Arai H. Kitai Y, et al. Among authors: okubo y. Brain Dev. 2016 Mar;38(3):267-73. doi: 10.1016/j.braindev.2015.09.007. Epub 2015 Oct 1. Brain Dev. 2016. PMID: 26428444
FDG-PET study of patients with Leigh syndrome.
Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S. Haginoya K, et al. Among authors: okubo y. J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008. Epub 2016 Feb 4. J Neurol Sci. 2016. PMID: 26944169
Reversible brain atrophy in glutaric aciduria type 1.
Numata-Uematsu Y, Sakamoto O, Kakisaka Y, Okubo Y, Oikawa Y, Arai-Ichinoi N, Kure S, Uematsu M. Numata-Uematsu Y, et al. Among authors: okubo y. Brain Dev. 2017 Jun;39(6):532-535. doi: 10.1016/j.braindev.2017.01.003. Epub 2017 Jan 29. Brain Dev. 2017. PMID: 28143689
A patient with Muenke syndrome manifesting migrating neonatal seizures.
Okubo Y, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K. Okubo Y, et al. Brain Dev. 2017 Nov;39(10):873-876. doi: 10.1016/j.braindev.2017.05.007. Epub 2017 May 24. Brain Dev. 2017. PMID: 28551036
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K. Suzuki-Muromoto S, et al. Among authors: okubo y. J Hum Genet. 2018 Jun;63(6):749-753. doi: 10.1038/s10038-018-0432-0. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556033
1,415 results