Akira Nishimura

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 539 citations

Neurological Disorder, Genetic Disorder, Genetics +8

Mechanical behavior of gas‐saturated methane hydrate‐bearing sediments

Masayuki Hyodo, Yanghui Li, Jun Yoneda et al. · Journal of Geophysical Research Solid Earth · 2013 · 264 citations · Full text

Rock Testing, Engineering, Mechanical Engineering +16

Effects of dissociation on the shear strength and deformation behavior of methane hydrate-bearing sediments

Masayuki Hyodo, Yanghui Li, Jun Yoneda et al. · Marine and Petroleum Geology · 2013 · 248 citations

Geotechnical Engineering, Engineering, Deformation Behavior +9

<i>STXBP1</i> mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada et al. · Epilepsia · 2010 · 155 citations

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada et al. · The American Journal of Human Genetics · 2010 · 151 citations · Full text

Mendelian Disorder, Severe Cerebral Hypomyelination, Neurological Disorder +10