Kazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, Masamune Sakamoto, Ryosuke Miyamoto, Yuishin Izumi, Kei Ohashi, Ayako Hattori, Noboru Yoshida, Yoshiteru Azuma, et al. Clinical and genetic spectrum of patients with IRF2BPL syndrome. Journal of human genetics. 2025
Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, et al. Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report. Human genome variation. 2024. 11. 1. 29-29
Shingo Numoto, Syuntaro Takasu, Tomomi Nakamura, Mizuki Takagi, Hirokazu Kurahashi, Yoshiteru Azuma, Akihisa Okumura. Acute Magnetic Resonance Imaging Findings in Young Children With Moyamoya Disease. Pediatric neurology. 2024. 156. 106-112
Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara-Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, et al. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. Journal of neurology. 2024. 271. 3. 1331-1341
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O'Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A C 't Hoen, Teodora Chamova, et al. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature communications. 2024. 15. 1. 1227-1227
Natsume Jun, Ishihara Naoko, Azuma Yoshiteru, Nakata Tomohiko, Takeuchi Tomoya, Ito Yuji, Sakaguchi Yoko, Okai Yu, Yamamoto Hiroyuki, Ohno Atsuko, et al. グルコース輸送体1欠損のFDG-PET所見 レンズ核と視床の活性の割合(FDG-PET findings in glucose transporter 1 deficiency: activity ratio of lenticular nuclei and thalami). てんかん研究. 2016. 34. 2. 402-402
T. Takeuchi, N. Ishihara, H. Yamamoto, Y. Azuma, T. Negoro, K. Watanabe, J. Natsume. THE EFFECT OF CO-MEDICATIONS ON LAMOTRIGINE CLEARANCE IN JAPANESE CHILDREN WITH EPILEPSY. EPILEPSIA. 2013. 54. 72-72
C. Ogawa, J. Natsume, T. Takeuchi, H. Yamamoto, Y. Azuma, H. Kidokoro, N. Ishihara, K. Miura, K. Watanabe. FIRST AUTOPSY REPORT OF A PATIENT WITH ACUTE ENCEPHALITIS WITH REFRACTORY, REPETITIVE PARTIAL SEIZURES. EPILEPSIA. 2013. 54. 315-315
N. Ishihara, J. Natsume, C. Ogawa, T. Takeuchi, H. Yamamoto, Y. Azuma, H. Kidokoro, K. Miura, T. Negoro, K. Watanabe. THE DIFFERENCE OF SIDE EFFECTS ACCORDING TO AGE DURING ACTH THERAPY. EPILEPSIA. 2013. 54. 65-65
