Yasuhiro Takeshima

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

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.

N. Shiga, Yasuhiro Takeshima, Hiroshi Sakamoto et al. · Journal of Clinical Investigation · 1997 · 151 citations · Full text

Dystrophin Gene, Genetics, Becker Muscular Dystrophy +17

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

Yosuke Harada, Retno Sutomo, Ahmad Hamim Sadewa et al. · Journal of Neurology · 2002 · 134 citations

Rare Diseases, Genetic Disorder, Disease Severity +9

Induction of Exon Skipping of the Dystrophin Transcript in Lymphoblastoid Cells by Transfecting an Antisense Oligodeoxynucleotide Complementary to an Exon Recognition Sequence

Zacharias Aloysius Dwi Pramono, Yasuhiro Takeshima, Haryanto Alimsardjono et al. · Biochemical and Biophysical Research Communications · 1996 · 132 citations

Exon Skipping, Protein Expression, Natural Sciences +9

Novel Nonsense Mutation in the Na+/HCO3 - Cotransporter Gene (SLC4A4) in a Patient with Permanent Isolated Proximal Renal Tubular Acidosis and Bilateral Glaucoma

Takashi Igarashi, Jun Inatomi, Takashi Sekine et al. · Journal of the American Society of Nephrology · 2001 · 124 citations