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31 results

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Page 1
Spinal muscular atrophy: from gene discovery to clinical trials.
Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H. Nurputra DK, et al. Ann Hum Genet. 2013 Sep;77(5):435-63. doi: 10.1111/ahg.12031. Epub 2013 Jul 23. Ann Hum Genet. 2013. PMID: 23879295 Review.
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: harahap nif. 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
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. 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. 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.
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: harahap nif. Kobe J Med Sci. 2020 Apr 1;66(1):E1-E11. Kobe J Med Sci. 2020. PMID: 32814752 Free PMC article.
31 results