Lee MJ - Search Results

1

HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1.

Irimura S, Kitamura K, Kato N, Saiki K, Takeuchi A, Gunadi, Matsuo M, Nishio H, Lee MJ. Irimura S, et al. Among authors: lee mj. Kobe J Med Sci. 2009 Mar 10;54(5):E227-36. Kobe J Med Sci. 2009. PMID: 19628962 Free article.

2

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.

Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Gunadi, Takeshima Y, Matsuo M, Nishio H. Tran VK, et al. Among authors: lee mj. Pediatr Int. 2008 Jun;50(3):346-51. doi: 10.1111/j.1442-200X.2008.02590.x. Pediatr Int. 2008. PMID: 18533950 Free article.

3

The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.

Sadewa AH, Sunarti, Sutomo R, Hayashi C, Lee MJ, Ayaki H, Sofro AS, Matsuo M, Nishio H. Sadewa AH, et al. Among authors: lee mj. Kobe J Med Sci. 2002 Dec;48(5-6):137-44. Kobe J Med Sci. 2002. PMID: 12594357 Free article.

4

ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population.

Sasongko TH, Sadewa AH, Kusuma PA, Damanik MP, Lee MJ, Ayaki H, Nozu K, Goto A, Matsuo M, Nishio H. Sasongko TH, et al. Among authors: lee mj. Kobe J Med Sci. 2005;51(3-4):41-7. Kobe J Med Sci. 2005. PMID: 16421456 Free article.

5

A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.

Kotani T, Sutomo R, Sasongko TH, Sadewa AH, Gunadi, Minato T, Fujii E, Endo S, Lee MJ, Ayaki H, Harada Y, Matsuo M, Nishio H. Kotani T, et al. Among authors: lee mj. J Neurol. 2007 May;254(5):624-30. doi: 10.1007/s00415-006-0410-x. Epub 2007 Apr 6. J Neurol. 2007. PMID: 17415510

6

Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.

Sasongko TH, Sadewa AH, Gunadi, Lee MJ, Koterazawa K, Nishio H. Sasongko TH, et al. Among authors: lee mj. Kobe J Med Sci. 2007;53(4):157-62. Kobe J Med Sci. 2007. PMID: 17932455 Free article.

7

Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.

Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, Yusoff S, Harahap IS, Lee MJ, Matsuo M, Nishio H. Sasongko TH, et al. Among authors: lee mj. Kobe J Med Sci. 2008 May 23;54(1):E73-81. Kobe J Med Sci. 2008. PMID: 18772611 Free article.

8

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines.

Harahap IS, Saito T, San LP, Sasaki N, Gunadi, Nurputra DK, Yusoff S, Yamamoto T, Morikawa S, Nishimura N, Lee MJ, Takeshima Y, Matsuo M, Nishio H. Harahap IS, et al. Among authors: lee mj. Brain Dev. 2012 Mar;34(3):213-22. doi: 10.1016/j.braindev.2011.04.010. Epub 2011 May 11. Brain Dev. 2012. PMID: 21561730

9

Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations.

Morikawa S, Harahap IS, Kaszynski RH, Yamamoto T, Pramudya DK, Pham HT, Hartomo TB, Lee MJ, Morioka I, Nishimura N, Yokoyama N, Ueno Y, Matsuo M, Nishio H. Morikawa S, et al. Among authors: lee mj. Genet Test Mol Biomarkers. 2011 Oct;15(10):677-84. doi: 10.1089/gtmb.2010.0237. Epub 2011 Jun 1. Genet Test Mol Biomarkers. 2011. PMID: 21631299

10

Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity.

Nishio H, Ishikawa Y, Lee MJ, Fujii M, Kanda F, Jinnai K, Takahashi K, Takeshima Y, Wada H, Takada S, Nakamura H, Matsuo M, Sumino K. Nishio H, et al. Among authors: lee mj. Neurology. 1997 May;48(5):1266-70. doi: 10.1212/wnl.48.5.1266. Neurology. 1997. PMID: 9153454

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