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Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.
Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Taniwaki T, Shibata H. Miura S, et al. Among authors: uchiyama y. Eur J Med Genet. 2019 Mar;62(3):172-176. doi: 10.1016/j.ejmg.2018.07.005. Epub 2018 Jul 11. Eur J Med Genet. 2019. PMID: 30017992
The Successful Treatment of Myeloperoxidase Antineutrophil Cytoplasmic Antibody-positive Hypertrophic Pachymeningitis in Patients with the Limited Form of Granulomatosis with Polyangiitis Using Methotrexate: Two Case Reports.
Kaieda S, Yoshida N, Minezaki M, Ushijima S, Wakasugi D, Miura S, Uchiyama Y, Ida H, Hoshino T. Kaieda S, et al. Among authors: uchiyama y. Intern Med. 2017;56(8):959-965. doi: 10.2169/internalmedicine.56.7742. Epub 2017 Apr 15. Intern Med. 2017. PMID: 28420847 Free PMC article.
A Japanese family with dystonia due to a pathogenic variant in SGCE.
Morikawa T, Miura S, Fan L, Watanabe E, Fujioka R, Motooka H, Yasumoto S, Uchiyama Y, Shibata H. Morikawa T, et al. Among authors: uchiyama y. Hum Genome Var. 2022 Aug 22;9(1):29. doi: 10.1038/s41439-022-00207-8. Hum Genome Var. 2022. PMID: 35995778 Free PMC article.
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
Miura S, Watanabe E, Senzaki K, Hiruki S, Matsumoto S, Morikawa T, Uchiyama Y, Kurata S, Ochi M, Ohyagi Y, Shibata H. Miura S, et al. Among authors: uchiyama y. Hum Genome Var. 2024 Jan 15;11(1):3. doi: 10.1038/s41439-023-00261-w. Hum Genome Var. 2024. PMID: 38221525 Free PMC article.
Predictive Value of Leakage Signs for Pure Brain Contusional Hematoma Expansion.
Orito K, Hirohata M, Nakamura Y, Yamamoto M, Takeshige N, Aoki T, Hattori G, Sakata K, Takeuchi Y, Uzu H, Takasu O, Abe T, Uchiyama Y, Morioka M. Orito K, et al. Among authors: uchiyama y. J Neurotrauma. 2018 Mar 1;35(5):760-766. doi: 10.1089/neu.2017.5247. J Neurotrauma. 2018. PMID: 28967295
1,188 results