Masafumi Matsuo

Effect of the mutation (C3435T) at exon 26 of the <i>MDR1</i> gene on expression level of MDR1 messenger ribonucleic acid in duodenal enterocytes of healthy Japanese subjects

Tsutomu Nakamura, Toshiyuki Sakaeda, Masanori Horinouchi et al. · Clinical Pharmacology & Therapeutics · 2002 · 260 citations

Duodenal Enterocytes, Medicine, Genetics +14

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

Yasuhiro Takeshima, Mariko Yagi, Yo Okizuka et al. · Journal of Human Genetics · 2010 · 248 citations · Full text

Rare Diseases, Dystrophin Gene, Mendelian Disorder +9

Mortality Rates for Extremely Low Birth Weight Infants Born in Japan in 2005

Kazuo Itabashi, Takeshi Horiuchi, Satoshi Kusuda et al. · PEDIATRICS · 2009 · 219 citations

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.

Naoko Narita, Hisahide Nishio, Yoshihiko Kitoh et al. · Journal of Clinical Investigation · 1993 · 201 citations · Full text

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 192 citations

Artificial Dmd Protein, Genetics, Molecular Biology +16