Matsuo M - Search Results

1

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

Tran VK, Zhang Z, Yagi M, Nishiyama A, Habara Y, Takeshima Y, Matsuo M. Tran VK, et al. Among authors: matsuo m. J Hum Genet. 2005;50(8):425-433. doi: 10.1007/s10038-005-0272-6. Epub 2005 Aug 30. J Hum Genet. 2005. PMID: 16133659

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

Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy.

Matsuo M. Matsuo M. IUBMB Life. 2002 Mar;53(3):147-52. doi: 10.1080/15216540212333. IUBMB Life. 2002. PMID: 12102170 Free article. Review.

4

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J. Saito-Ohara F, et al. Among authors: matsuo m. Am J Hum Genet. 2002 Sep;71(3):637-45. doi: 10.1086/342208. Epub 2002 Jul 23. Am J Hum Genet. 2002. PMID: 12145744 Free PMC article.

5

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.

Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M. Suminaga R, et al. Among authors: matsuo m. J Hum Genet. 2002;47(4):196-201. doi: 10.1007/s100380200023. J Hum Genet. 2002. PMID: 12166656

6

[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.

7

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

8

Comparative study on deletions of the dystrophin gene in three Asian populations.

Lai PS, Takeshima Y, Adachi K, Van Tran K, Nguyen HT, Low PS, Matsuo M. Lai PS, et al. Among authors: matsuo m. J Hum Genet. 2002;47(10):552-5. doi: 10.1007/s100380200084. J Hum Genet. 2002. PMID: 12376747

9

Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.

Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y, Matsuo M. Sutomo R, et al. Among authors: matsuo m. Am J Med Genet. 2002 Nov 22;113(2):225-6. doi: 10.1002/ajmg.10744. Am J Med Genet. 2002. PMID: 12407717 No abstract available.

10

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.

Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M. Adachi K, et al. Among authors: matsuo m. Pediatr Res. 2003 Jan;53(1):125-31. doi: 10.1203/00006450-200301000-00021. Pediatr Res. 2003. PMID: 12508091

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