Nishio H - Search Results

1

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: nishio h. 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

2

Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.

Akutsu T, Nishio H, Sumino K, Takeshima Y, Tsuneishi S, Wada H, Takada S, Matsuo M, Nakamura H. Akutsu T, et al. Among authors: nishio h. Kobe J Med Sci. 2002 Apr;48(1-2):25-31. Kobe J Med Sci. 2002. PMID: 11912351 Free article.

3

[Dystrophin gene analysis on 76 families with dystrophinopathy].

Adachi K, Yagi M, Ito T, Takeshima Y, Nishio H, Wada H, Nakamura H, Matsuo M. Adachi K, et al. Among authors: nishio h. No To Hattatsu. 2002 Sep;34(5):391-7. No To Hattatsu. 2002. PMID: 12233050 Japanese.

4

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H. Harada Y, et al. Among authors: nishio h. J Neurol. 2002 Sep;249(9):1211-9. doi: 10.1007/s00415-002-0811-4. J Neurol. 2002. PMID: 12242541

5

Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

Nguyen DB, Sadewa AH, Takeshima Y, Sutomo R, Tran VK, Nguyen TN, Nguyen TH, Vu CD, Dang DH, Harada Y, Nishio H, Matsuo M. Nguyen DB, et al. Among authors: nishio h. Kobe J Med Sci. 2003;49(3-4):55-8. Kobe J Med Sci. 2003. PMID: 14676483 Free article.

6

Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy.

Zilfalil BA, Zabidi-Hussin AM, Watihayati MS, Rozainah MY, Naing L, Sutomo R, Nishio H, Narazah MY, Matsuo M. Zilfalil BA, et al. Among authors: nishio h. Med J Malaysia. 2004 Oct;59(4):512-4. Med J Malaysia. 2004. PMID: 15779584 Free article.

7

Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.

Yusoff S, Van Rostenberghe H, Yusoff NM, Talib NA, Ramli N, Ismail NZ, Ismail WP, Matsuo M, Nishio H. Yusoff S, et al. Among authors: nishio h. Biol Neonate. 2006;89(3):171-6. doi: 10.1159/000088844. Epub 2005 Oct 6. Biol Neonate. 2006. PMID: 16210851

8

Evaluation of mutation effects on UGT1A1 activity toward 17beta-estradiol using liquid chromatography-tandem mass spectrometry.

Wada K, Takeuchi A, Saiki K, Sutomo R, Van Rostenberghe H, Yusoff NM, Laosombat V, Sadewa AH, Talib NA, Yusoff S, Lee MJ, Ayaki H, Nakamura H, Matsuo M, Nishio H. Wada K, et al. Among authors: nishio h. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 21;838(1):9-14. doi: 10.1016/j.jchromb.2006.01.030. Epub 2006 Feb 28. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16504606

9

NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.

Watihayati MS, Zabidi AM, Tang TH, Nishio H, Zilfalil BA. Watihayati MS, et al. Among authors: nishio h. Kobe J Med Sci. 2007;53(4):171-5. Kobe J Med Sci. 2007. PMID: 17932457 Free article.

10

Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.

Gunadi; Sasongko TH, Yusoff S, Lee MJ, Nishioka E, Matsuo M, Nishio H. Gunadi, et al. Among authors: nishio h. Ann Hum Genet. 2008 Mar;72(Pt 2):288-91. doi: 10.1111/j.1469-1809.2007.00409.x. Ann Hum Genet. 2008. PMID: 18269687

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