Tojo Nakayama

Tojo Nakayama

Harvard University - Cambridge / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1340732
person_outline Tojo Nakayama's MOST POPULAR ARTICLES
1-) A homozygous mutation of voltage‐gated sodium channel βI gene SCN1B in a patient with Dravet syndromeI Ogiwara, T Nakayama, T Yamagata, H Ohtani, E Mazaki, S Tsuchiya, ...Epilepsia 53 (12), e200-e203, 2012882012
2-) Nav1. 2 haplodeficiency in excitatory neurons causes absence-like seizures in miceI Ogiwara, H Miyamoto, T Tatsukawa, T Yamagata, T Nakayama, ...Communications biology 1 (1), 96, 2018662018
3-) Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelinationT Nakayama, A Al-Maawali, M El-Quessny, A Rajab, S Khalil, JM Stoler, ...The American Journal of Human Genetics 96 (5), 709-719, 2015652015
4-) Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeN Hino-Fukuyo, A Kikuchi, N Arai-Ichinoi, T Niihori, R Sato, T Suzuki, ...Human genetics 134, 649-658, 2015762015
5-) Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathyT Nakayama, J Wu, P Galvin‐Parton, J Weiss, MR Andriola, RS Hill, ...Human mutation 38 (10), 1348-1354, 2017702017