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2018 1
2019 3
2020 3
2021 7
2022 2
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15 results
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Page 1
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya YOS, Ar Rohmah M, Niba ETE, Morisada N, Noguchi Y, Hidaka Y, Ozasa S, Inoue T, Shimazu T, Takahashi Y, Tozawa T, Chiyonobu T, Inoue T, Shiroshita T, Yokoyama A, Okamoto K, Awano H, Takeshima Y, Saito T, Saito K, Nishio H, Shinohara M. Wijaya YOS, et al. Brain Dev. 2021 Aug;43(7):745-758. doi: 10.1016/j.braindev.2021.03.006. Epub 2021 Apr 20. Brain Dev. 2021. PMID: 33892995
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Niba ETE, Nishio H, Wijaya YOS, Lai PS, Tozawa T, Chiyonobu T, Yamadera M, Okamoto K, Awano H, Takeshima Y, Saito T, Shinohara M. Niba ETE, et al. Among authors: wijaya yos. Brain Dev. 2021 Feb;43(2):294-302. doi: 10.1016/j.braindev.2020.09.005. Epub 2020 Oct 6. Brain Dev. 2021. PMID: 33036822
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Among authors: wijaya yos. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 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: wijaya yos. Kobe J Med Sci. 2020 Apr 1;66(1):E1-E11. Kobe J Med Sci. 2020. PMID: 32814752 Free PMC article.
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Wijaya YOS, Nishio H, Niba ETE, Shiroshita T, Kato M, Bouike Y, Tode C, Ar Rochmah M, Harahap NIF, Nurputra DK, Okamoto K, Saito T, Takeuchi A, Lai PS, Yamaguchi S, Shinohara M. Wijaya YOS, et al. Genet Test Mol Biomarkers. 2021 Apr;25(4):293-301. doi: 10.1089/gtmb.2020.0312. Genet Test Mol Biomarkers. 2021. PMID: 33877896
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.
Harahap NIF, Niba ETE, Ar Rochmah M, Wijaya YOS, Saito T, Saito K, Awano H, Morioka I, Iijima K, Lai PS, Matsuo M, Nishio H, Shinohara M. Harahap NIF, et al. Among authors: wijaya yos. Brain Dev. 2018 Sep;40(8):670-677. doi: 10.1016/j.braindev.2018.03.001. Epub 2018 Mar 23. Brain Dev. 2018. PMID: 29580671
15 results