Okubo Y - Search Results

1

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K. Suzuki-Muromoto S, et al. Among authors: okubo y. J Hum Genet. 2019 May;64(5):499-504. doi: 10.1038/s10038-019-0579-3. Epub 2019 Mar 6. J Hum Genet. 2019. PMID: 30842599

2

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

3

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K. Hino-Fukuyo N, et al. Among authors: okubo y. Pediatr Neurol. 2016 Jan;54:39-42.e1. doi: 10.1016/j.pediatrneurol.2015.08.016. Epub 2015 Aug 28. Pediatr Neurol. 2016. PMID: 26545857

4

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

5

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K. Sato R, et al. Among authors: okubo y. Brain Dev. 2016 Oct;38(9):852-6. doi: 10.1016/j.braindev.2016.04.007. Epub 2016 May 7. Brain Dev. 2016. PMID: 27165443

6

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

7

Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome.

Oikawa Y, Okubo Y, Numata-Uematsu Y, Aihara Y, Kitamura T, Takayanagi M, Takahashi Y, Kure S, Uematsu M. Oikawa Y, et al. Among authors: okubo y. J Clin Neurosci. 2017 May;39:108-110. doi: 10.1016/j.jocn.2017.01.010. Epub 2017 Feb 10. J Clin Neurosci. 2017. PMID: 28209305

8

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

9

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.

Okubo Y, Endo W, Inui T, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Sato R, Arai-Ichinoi N, Kikuchi A, Kure S, Haginoya K. Okubo Y, et al. Brain Dev. 2018 Apr;40(4):334-338. doi: 10.1016/j.braindev.2017.11.011. Epub 2017 Dec 16. Brain Dev. 2018. PMID: 29254829

10

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

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