Nishio H - Search Results

1

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.

Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H. Nishio H, et al. Int J Mol Sci. 2023 Jul 26;24(15):11939. doi: 10.3390/ijms241511939. Int J Mol Sci. 2023. PMID: 37569314 Free PMC article. Review.

2

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. Among authors: nishio h. 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.

3

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: nishio h. 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

4

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: nishio h. 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

5

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

Shinohara M, Ar Rochmah M, Nakanishi K, Harahap NIF, Niba ETE, Saito T, Saito K, Takeuchi A, Bouike Y, Nishio H. Shinohara M, et al. Among authors: nishio h. Kobe J Med Sci. 2017 Sep 7;63(2):E37-E40. Kobe J Med Sci. 2017. PMID: 29434172 Free PMC article.

6

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

Ar Rochmah M, Shima A, Harahap NIF, Niba ETE, Morisada N, Yanagisawa S, Saito T, Kaneko K, Saito K, Morioka I, Iijima K, Lai PS, Bouike Y, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: nishio h. Kobe J Med Sci. 2017 Oct 16;63(2):E41-E44. Kobe J Med Sci. 2017. PMID: 29434173 Free PMC article.

7

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: nishio h. 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

8

Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Niba ETE, Rochmah MA, Harahap NIF, Awano H, Morioka I, Iijima K, Takeshima Y, Saito T, Saito K, Takeuchi A, Lai PS, Bouike Y, Matsuo M, Nishio H, Shinohara M. Niba ETE, et al. Among authors: nishio h. Kobe J Med Sci. 2019 Jul 16;65(2):E44-E48. Kobe J Med Sci. 2019. PMID: 31956255 Free PMC article.

9

Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Niba ETE, Rochmah MA, Harahap NIF, Awano H, Morioka I, Iijima K, Takeshima Y, Saito T, Saito K, Takeuchi A, Lai PS, Bouike Y, Matsuo M, Nishio H, Shinohara M. Niba ETE, et al. Among authors: nishio h. Kobe J Med Sci. 2019 Jul 16;65(2):E49-E53. Kobe J Med Sci. 2019. PMID: 31956256 Free PMC article.

10

Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.

Wijaya YOS, Niba ETE, Rochmah MA, Harahap NIF, Awano H, Takeshima Y, Saito T, Saito K, Takeuchi A, Lai PS, Bouike Y, Nishio H, Shinohara M. Wijaya YOS, et al. Among authors: nishio h. Kobe J Med Sci. 2019 Jul 16;65(2):E54-E58. Kobe J Med Sci. 2019. PMID: 31956257 Free PMC article.

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