Masano Amamoto

Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Hiroyuki Torisu, Ryutaro Kira, Yoshito Ishizaki et al. · Brain and Development · 2009 · 109 citations

Neurological Disorder, Medicine, Pediatrics +7

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Hirofumi Kodera, Mitsuhiro Kato, Alex S. Nord et al. · Epilepsia · 2013 · 80 citations · Full text

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor et al. · The American Journal of Human Genetics · 2016 · 69 citations · Full text

Early-onset Epileptic Encephalopathy, Genetic Disorder, Genetics +9

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita et al. · Journal of Medical Genetics · 2019 · 42 citations