Matsuo M - Search Results

1

Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.

Fukushima S, Farea M, Maeta K, Rani AQM, Fujioka K, Nishio H, Matsuo M. Fukushima S, et al. Among authors: matsuo m. Int J Mol Sci. 2020 Nov 30;21(23):9136. doi: 10.3390/ijms21239136. Int J Mol Sci. 2020. PMID: 33266296 Free PMC article.

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: matsuo m. Kobe J Med Sci. 2002 Apr;48(1-2):25-31. Kobe J Med Sci. 2002. PMID: 11912351 Free article.

3

Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.

Sutomo R, Laosombat V, Sadewa AH, Yokoyama N, Nakamura H, Matsuo M, Nishio H. Sutomo R, et al. Among authors: matsuo m. Pediatr Int. 2002 Aug;44(4):427-32. Pediatr Int. 2002. PMID: 12139570

4

[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: matsuo m. No To Hattatsu. 2002 Sep;34(5):391-7. No To Hattatsu. 2002. PMID: 12233050 Japanese.

5

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: matsuo m. J Neurol. 2002 Sep;249(9):1211-9. doi: 10.1007/s00415-002-0811-4. J Neurol. 2002. PMID: 12242541

6

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: matsuo m. Kobe J Med Sci. 2002 Dec;48(5-6):137-44. Kobe J Med Sci. 2002. PMID: 12594357 Free article.

7

Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.

Khanh TV, Takeshima Y, Harada Y, Nishio H, Dao NT, Hoan NT, Thao BP, Matsuo M. Khanh TV, et al. Among authors: matsuo m. Kobe J Med Sci. 2002 Dec;48(5-6):177-82. Kobe J Med Sci. 2002. PMID: 12657835 Free article.

8

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: matsuo m. Kobe J Med Sci. 2003;49(3-4):55-8. Kobe J Med Sci. 2003. PMID: 14676483 Free article.

9

A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus.

Tanimoto H, Nishio H, Matsuo M, Nibu K. Tanimoto H, et al. Among authors: matsuo m. Acta Otolaryngol. 2004 Apr;124(3):258-61. doi: 10.1080/00016480310015740. Acta Otolaryngol. 2004. PMID: 15141753

10

Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene.

Yamashita M, Nishio H, Harada Y, Matsuo M, Yamamoto T. Yamashita M, et al. Among authors: matsuo m. Eur Neurol. 2004;52(2):101-6. doi: 10.1159/000080140. Epub 2004 Aug 9. Eur Neurol. 2004. PMID: 15305106

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