Saito K - Search Results

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. Among authors: saito k, saito t. 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.

2

New insights into the pathogenesis of spinal muscular atrophy.

Ito Y, Shibata N, Saito K, Kobayashi M, Osawa M. Ito Y, et al. Among authors: saito k. Brain Dev. 2011 Apr;33(4):321-31. doi: 10.1016/j.braindev.2010.06.009. Brain Dev. 2011. PMID: 20605078

3

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: saito k. 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

4

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

Harahap NI, Takeuchi A, Yusoff S, Tominaga K, Okinaga T, Kitai Y, Takarada T, Kubo Y, Saito K, Sa'adah N, Nurputra DK, Nishimura N, Saito T, Nishio H. Harahap NI, et al. Among authors: saito k, saito t. Brain Dev. 2015 Aug;37(7):669-76. doi: 10.1016/j.braindev.2014.10.006. Epub 2014 Oct 31. Brain Dev. 2015. PMID: 25459970

5

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

Kubo Y, Nishio H, Saito K. Kubo Y, et al. Among authors: saito k. J Hum Genet. 2015 May;60(5):233-9. doi: 10.1038/jhg.2015.16. Epub 2015 Feb 26. J Hum Genet. 2015. PMID: 25716911

6

SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.

Kato N, Sa'Adah N, Ar Rochmah M, Harahap NI, Nurputra DK, Sato H, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishimura N, Nishio H, Takeuchi A. Kato N, et al. Among authors: saito k, saito t. Kobe J Med Sci. 2015 Jan 19;60(4):E78-85. Kobe J Med Sci. 2015. PMID: 25791416 Free article.

7

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

Yamada H, Nishida Y, Maihara T, Sa'adah N, Harahap NI, Nurputra DK, Ar Rochmah M, Nishimura N, Saito T, Kubo Y, Saito K, Nishio H. Yamada H, et al. Among authors: saito k, saito t. Pediatr Neurol. 2015 Jun;52(6):638-41. doi: 10.1016/j.pediatrneurol.2015.02.023. Epub 2015 Feb 28. Pediatr Neurol. 2015. PMID: 25838041

8

A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.

Sa'adah N, Harahap NI, Nurputra DK, Rochmah MA, Morikawa S, Nishimura N, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishio H. Sa'adah N, et al. Among authors: saito k, saito t. Clin Lab. 2015;61(5-6):575-80. doi: 10.7754/clin.lab.2014.141008. Clin Lab. 2015. PMID: 26118191 Clinical Trial.

9

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: saito k, saito t. Pediatr Neurol. 2016 May;58:83-9. doi: 10.1016/j.pediatrneurol.2016.01.019. Epub 2016 Jan 30. Pediatr Neurol. 2016. PMID: 27268759

10

Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy.

Arakawa R, Arakawa M, Kaneko K, Otsuki N, Aoki R, Saito K. Arakawa R, et al. Among authors: saito k. Pediatr Neurol. 2016 Aug;61:70-5. doi: 10.1016/j.pediatrneurol.2016.05.009. Epub 2016 May 26. Pediatr Neurol. 2016. PMID: 27353697

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