Tomohiko Nakata

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Bisei Ohkawara, Macarena Cabrera‐Serrano, Tomohiko Nakata et al. · Human Molecular Genetics · 2013 · 122 citations · Full text

Life Sciences, Genetics, Neuroscience +16

A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1

Yosuke Kokunai, Tomohiko Nakata, Mitsuru Furuta et al. · Neurology · 2014 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction

Tomohiko Nakata, Mikako Ito, Yoshiteru Azuma et al. · Human Mutation · 2013 · 35 citations · Full text

Life Sciences, Biochemistry, Neuroscience +14

Hippocampal diffusion abnormality after febrile status epilepticus is related to subsequent epilepsy

Setsuri Yokoi, Hiroyuki Kidokoro, Hiroyuki Yamamoto et al. · Epilepsia · 2019 · 31 citations

Medicine, Neurology, Neuroscience +17

A missense mutation in domain III in HSPG2 in Schwartz–Jampel syndrome compromises secretion of perlecan into the extracellular space

Satoshi Iwata, Mikako Ito, Tomohiko Nakata et al. · Neuromuscular Disorders · 2015 · 24 citations

Life Sciences, Genetics, Molecular Biology +7