Michal M Andelman-Gur, Hirotomo Saitsu, Naomichi Matsumoto, Ronen Spiegel, Keren Yosovich, Dorit Lev, Tally Lerman-Sagie, Lubov Blumkin. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. European journal of medical genetics. 2020. 63. 12. 104061-104061
Satoshi Akamine, Sayaka Okuzono, Hiroyuki Yamamoto, Daiki Setoyama, Noriaki Sagata, Masahiro Ohgidani, Takahiro A Kato, Tohru Ishitani, Hiroki Kato, Keiji Masuda, et al. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2020. 34. 12. 16601-16621
Rie Anzai, Megumi Tsuji, Sumimasa Yamashita, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Tomohide Goto. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain & development. 2020
Takuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, Mitsuko Nakashima, Hirotomo Saitsu. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. Brain & development. 2020