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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: lai ps. 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
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: lai ps. 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
Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
Zhang K, Loong SSE, Yuen LZH, Venketasubramanian N, Chin HL, Lai PS, Tan BYQ. Zhang K, et al. Among authors: lai ps. J Cardiovasc Dev Dis. 2023 Dec 13;10(12):495. doi: 10.3390/jcdd10120495. J Cardiovasc Dev Dis. 2023. PMID: 38132662 Free PMC article. Review.
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Yamamoto T, et al. Among authors: lai ps. Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17. Brain Dev. 2014. PMID: 24359787
354 results