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A patient with early-onset SMAX3 and a novel variant of ATP7A.
Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Shibuya M, et al. Brain Dev. 2022 Jan;44(1):63-67. doi: 10.1016/j.braindev.2021.08.004. Epub 2021 Aug 26. Brain Dev. 2022. PMID: 34456088
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
Endo W, Ikemoto S, Togashi N, Miyabayashi T, Nakajima E, Hamano SI, Shibuya M, Sato R, Takezawa Y, Okubo Y, Inui T, Kato M, Sengoku T, Ogata K, Hamanaka K, Mizuguchi T, Miyatake S, Nakashima M, Matsumoto N, Haginoya K. Endo W, et al. Among authors: shibuya m. Brain Dev. 2020 Feb;42(2):199-204. doi: 10.1016/j.braindev.2019.10.006. Epub 2019 Nov 15. Brain Dev. 2020. PMID: 31735425
Two cases of persistent falcine and occipital sinuses.
Inui T, Shibuya M, Miyabayashi T, Sato R, Okubo Y, Endo W, Togashi N, Shimanuki Y, Mori H, Haginoya K. Inui T, et al. Among authors: shibuya m. Brain Dev. 2021 Jan;43(1):170-173. doi: 10.1016/j.braindev.2020.07.011. Epub 2020 Aug 3. Brain Dev. 2021. PMID: 32762957
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, Kawashima A, Okubo Y, Endo W, Inui T, Togashi N, Tanaka S, Kobayashi Y, Onuma A, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Narishige Y, et al. Among authors: shibuya m. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010. Epub 2022 Mar 24. Tohoku J Exp Med. 2022. PMID: 35321980 Free article.
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.
Shibuya M, Togashi N, Inui T, Okubo Y, Endo W, Miyabayashi T, Sato R, Takezawa Y, Kodama K, Ikeda M, Kawashima A, Haginoya K. Shibuya M, et al. Tohoku J Exp Med. 2022 Aug 6;258(1):49-54. doi: 10.1620/tjem.2022.J056. Epub 2022 Jul 7. Tohoku J Exp Med. 2022. PMID: 35793947 Free article. Review.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Okubo Y, et al. Among authors: shibuya m. Brain Dev. 2023 Oct;45(9):505-511. doi: 10.1016/j.braindev.2023.06.009. Epub 2023 Jul 12. Brain Dev. 2023. PMID: 37442734
1,307 results