Matsuo M - Search Results

1

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Yamamoto T, et al. Among authors: matsuo m. Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17. Brain Dev. 2014. PMID: 24359787

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

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

5

[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.

6

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

7

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

8

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.

9

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

10

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.

Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M. Yagi M, et al. Among authors: matsuo m. Hum Genet. 2003 Feb;112(2):164-70. doi: 10.1007/s00439-002-0854-8. Epub 2002 Oct 31. Hum Genet. 2003. PMID: 12522557

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