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Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: okanishi t. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
Long-term weekly ACTH therapy for relapsed West syndrome.
Okanishi T, Sugiura C, Saito Y, Maegaki Y, Ohno K, Togari H. Okanishi T, et al. Pediatr Neurol. 2008 Jun;38(6):445-9. doi: 10.1016/j.pediatrneurol.2008.02.009. Pediatr Neurol. 2008. PMID: 18486831
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: okanishi t. J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12. J Hum Genet. 2017. PMID: 28077841
192 results