Matsuo M - Search Results

1

Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.

Takeshima Y, Nishio H, Narita N, Wada H, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. Takeshima Y, et al. Among authors: matsuo m. Neurology. 1994 Sep;44(9):1648-51. doi: 10.1212/wnl.44.9.1648. Neurology. 1994. PMID: 7936290

2

Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.

Kitoh Y, Matsuo M, Nishio H, Nakamura H. Kitoh Y, et al. Among authors: matsuo m. Kobe J Med Sci. 1994 Apr;40(2):39-48. Kobe J Med Sci. 1994. PMID: 7823533

3

Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.

Takeshima Y, Nishio H, Sakamoto H, Nakamura H, Matsuo M. Takeshima Y, et al. Among authors: matsuo m. J Clin Invest. 1995 Feb;95(2):515-20. doi: 10.1172/JCI117693. J Clin Invest. 1995. PMID: 7860733 Free PMC article.

Molecular analysis of dystrophin Kobe showed that exon 19 of the dystrophin gene bearing 52-bp deletion was skipped during splicing, although the known consensus sequences at the 5' and 3' splice sites of exon 19 were maintained (Matsuo, M., T. Masumura, H. Nishio, …

Molecular analysis of dystrophin Kobe showed that exon 19 of the dystrophin gene bearing 52-bp deletion was skipped during splicing, althoug …

4

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.

Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. Nishio H, et al. Among authors: matsuo m. J Clin Invest. 1994 Sep;94(3):1037-42. doi: 10.1172/JCI117417. J Clin Invest. 1994. PMID: 8083345 Free PMC article.

5

Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid [correction of lymphoplastoid] cells.

Nishio H, Matsuo M, Kitoh Y, Narita N, Shimmoto M, Suzuki Y, Nakamura H. Nishio H, et al. Among authors: matsuo m. J Neurol. 1993 Dec;241(2):81-6. doi: 10.1007/BF00869768. J Neurol. 1993. PMID: 8138829

6

A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

Hagiwara Y, Nishio H, Kitoh Y, Takeshima Y, Narita N, Wada H, Yokoyama M, Nakamura H, Matsuo M. Hagiwara Y, et al. Among authors: matsuo m. Am J Hum Genet. 1994 Jan;54(1):53-61. Am J Hum Genet. 1994. PMID: 8279470 Free PMC article.

7

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. Narita N, et al. Among authors: matsuo m. J Clin Invest. 1993 May;91(5):1862-7. doi: 10.1172/JCI116402. J Clin Invest. 1993. PMID: 8387534 Free PMC article.

8

Cardiac involvement in a family with Becker muscular dystrophy.

Yu Y, Yamabe H, Fujita H, Inoue T, Yokota Y, Nishio H, Wada H, Matsuo M, Yokoyama M. Yu Y, et al. Among authors: matsuo m. Intern Med. 1995 Sep;34(9):919-23. doi: 10.2169/internalmedicine.34.919. Intern Med. 1995. PMID: 8580570 Free article.

9

A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene.

Ishigaki C, Patria SY, Nishio H, Yabe M, Matsuo M. Ishigaki C, et al. Among authors: matsuo m. Neurology. 1996 May;46(5):1347-50. doi: 10.1212/wnl.46.5.1347. Neurology. 1996. PMID: 8628480

10

A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.

Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M. Patria SY, et al. Among authors: matsuo m. Proc Assoc Am Physicians. 1996 Jul;108(4):308-14. Proc Assoc Am Physicians. 1996. PMID: 8863344

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