Tojo Nakayama

A framework for individualized splice-switching oligonucleotide therapy

Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão et al. · Nature · 2023 · 135 citations · Full text

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

Ikuo Ogiwara, Hiroyuki Miyamoto, Tetsuya Tatsukawa et al. · Communications Biology · 2018 · 110 citations · Full text

A homozygous mutation of voltage‐gated sodium channel β _I gene <i>SCN1B</i> in a patient with Dravet syndrome

Ikuo Ogiwara, Tojo Nakayama, Tetsushi Yamagata et al. · Epilepsia · 2012 · 90 citations · Full text

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny et al. · The American Journal of Human Genetics · 2015 · 79 citations · Full text

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13