Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

88 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Water intoxication: A clue to the presence of classical Fabry disease.
Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Yanagisawa H, Eto Y, Haginoya K. Miyabayashi T, et al. Brain Dev. 2022 Sep;44(8):592-593. doi: 10.1016/j.braindev.2022.07.001. Epub 2022 Jul 18. Brain Dev. 2022. PMID: 35864002 No abstract available.
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. Among authors: miyabayashi t. 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: miyabayashi t. 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
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Takeguchi R, et al. Among authors: miyabayashi t. Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23. Brain Dev. 2018. PMID: 29699863
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y, Kikuchi A, Haginoya K, Niihori T, Numata-Uematsu Y, Inui T, Yamamura-Suzuki S, Miyabayashi T, Anzai M, Suzuki-Muromoto S, Okubo Y, Endo W, Togashi N, Kobayashi Y, Onuma A, Funayama R, Shirota M, Nakayama K, Aoki Y, Kure S. Takezawa Y, et al. Among authors: miyabayashi t. Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. doi: 10.1002/acn3.551. eCollection 2018 May. Ann Clin Transl Neurol. 2018. PMID: 29761117 Free PMC article.
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
Haginoya K, Togashi N, Kaneta T, Hino-Fukuyo N, Ishitobi M, Kakisaka Y, Uematsu M, Inui T, Okubo Y, Sato R, Miyabayashi T, Arai A, Ogiwara I, Mazaki E, Yamakawa K, Iinuma K, Kure S. Haginoya K, et al. Among authors: miyabayashi t. Epilepsy Res. 2018 Nov;147:9-14. doi: 10.1016/j.eplepsyres.2018.08.008. Epub 2018 Aug 27. Epilepsy Res. 2018. PMID: 30176532
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: miyabayashi t. 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
88 results