Miyabayashi T - Search Results

1

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K. Miyabayashi T, et al. J Hum Genet. 2019 Feb;64(2):171-176. doi: 10.1038/s10038-018-0538-4. Epub 2018 Nov 22. J Hum Genet. 2019. PMID: 30467354

2

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

3

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. Among authors: miyabayashi t. 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

4

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

5

High-risk screening for Gaucher disease in patients with neurological symptoms.

Momosaki K, Kido J, Matsumoto S, Yoshida S, Takei A, Miyabayashi T, Sugawara K, Endo F, Nakamura K. Momosaki K, et al. Among authors: miyabayashi t. J Hum Genet. 2018 Jun;63(6):717-721. doi: 10.1038/s10038-018-0438-7. Epub 2018 Mar 30. J Hum Genet. 2018. PMID: 29602947

6

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

7

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.

8

[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

9

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

10

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Inui T, Iwama K, Miyabayashi T, Sato R, Okubo Y, Endo W, Togashi N, Kakisaka Y, Kikuchi A, Mizuguchi T, Kure S, Matsumoto N, Haginoya K. Inui T, et al. Among authors: miyabayashi t. Eur J Med Genet. 2020 Mar;63(3):103769. doi: 10.1016/j.ejmg.2019.103769. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536832

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