研究業績

研究業績

• Inotani T, Horaguchi A, Morishita Y, Yoshida A, Otomo M, et al. Treatment of ZC4H2 Variant- Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report. Tohoku J Exp Med. 2024 Jan 25. doi: 10.1620/tjem.2024.J004.
• Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, et al. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. Pediatr Neurol. 2023 Sep;146:16-20. doi: 10.1016/j.pediatrneurol.2023.06.002.
• Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, et al. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w.
• Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010.
• Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, et al. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629.
• Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain Dev. 2022 Jan;44(1):63-67.