Takanori Yamagata

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 515 citations

Mendelian Disorder, Translational Biology, Disease Mechanism +6

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Tohru Matsuura, Takanori Yamagata, Daniel L. Burgess et al. · Nature Genetics · 2000 · 510 citations · Full text

Molecular Neuroscience, Genetics, Degenerative Disease +8

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Ai Hoshino, Makiko Saitoh, Akira Oka et al. · Brain and Development · 2011 · 401 citations

Neuroinfectious Diseases, Neurovirology, Pathogenesis +10

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 222 citations · Full text

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