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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.
Noguchi Y, Bo R, Nishio H, Matsumoto H, Matsui K, Yano Y, Sugawara M, Ueda G, Wijaya YOS, Niba ETE, Shinohara M, Bouike Y, Takeuchi A, Okamoto K, Saito T, Shimomura H, Lee T, Takeshima Y, Iijima K, Nozu K, Awano H. Noguchi Y, et al. Among authors: bouike y. Genes (Basel). 2022 Nov 14;13(11):2110. doi: 10.3390/genes13112110. Genes (Basel). 2022. PMID: 36421785 Free PMC article.
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T, Ar Rochmah M, Harahap NIF, Shinohara M, Saito T, Saito K, Lai PS, Bouike Y, Takeshima Y, Awano H, Morioka I, Iijima K, Nishio H, Takeuchi A. Takarada T, et al. Among authors: bouike y. Brain Dev. 2017 Aug;39(7):606-612. doi: 10.1016/j.braindev.2017.03.002. Epub 2017 Mar 31. Brain Dev. 2017. PMID: 28366534
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA.
Ar Rochmah M, Harahap NIF, Niba ETE, Nakanishi K, Awano H, Morioka I, Iijima K, Saito T, Saito K, Lai PS, Takeshima Y, Takeuchi A, Bouike Y, Okamoto M, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: bouike y. Brain Dev. 2017 Oct;39(9):774-782. doi: 10.1016/j.braindev.2017.04.015. Epub 2017 May 15. Brain Dev. 2017. PMID: 28522225
Spinal muscular atrophy carriers with two SMN1 copies.
Ar Rochmah M, Awano H, Awaya T, Harahap NIF, Morisada N, Bouike Y, Saito T, Kubo Y, Saito K, Lai PS, Morioka I, Iijima K, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: bouike y. Brain Dev. 2017 Nov;39(10):851-860. doi: 10.1016/j.braindev.2017.06.002. Epub 2017 Jul 1. Brain Dev. 2017. PMID: 28676237
22 results