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Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.
Rochmah MA, Wijaya YOS, Harahap NIF, Tode C, Takeuchi A, Ohuchi K, Shimazawa M, Hara H, Funato M, Saito T, Saito K, Lai PS, Awano H, Shinohara M, Nishio H, Niba ETE. Rochmah MA, et al. Among authors: shinohara m. Kobe J Med Sci. 2020 Apr 1;66(1):E1-E11. Kobe J Med Sci. 2020. PMID: 32814752 Free PMC article.
Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.
Noguchi Y, Onishi A, Nakamachi Y, Hayashi N, Harahap NI, Rochmah MA, Shima A, Yanagisawa S, Morisada N, Nakagawa T, Iijima K, Kasagi S, Saegusa J, Kawano S, Shinohara M, Tairaku S, Saito T, Kubo Y, Saito K, Nishio H. Noguchi Y, et al. Among authors: shinohara m. Pediatr Neurol. 2016 May;58:83-9. doi: 10.1016/j.pediatrneurol.2016.01.019. Epub 2016 Jan 30. Pediatr Neurol. 2016. PMID: 27268759
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
Yoshimoto S, Harahap NI, Hamamura Y, Ar Rochmah M, Shima A, Morisada N, Shinohara M, Saito T, Saito K, Lai PS, Matsuo M, Awano H, Morioka I, Iijima K, Nishio H. Yoshimoto S, et al. Among authors: shinohara m. Hum Genome Var. 2016 Dec 1;3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016. Hum Genome Var. 2016. PMID: 27917293 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: shinohara m. 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: shinohara m. 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: shinohara m. 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
1,484 results