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Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H. Yuan JH, et al. Among authors: taketani t. J Peripher Nerv Syst. 2023 Dec;28(4):597-607. doi: 10.1111/jns.12590. Epub 2023 Aug 18. J Peripher Nerv Syst. 2023. PMID: 37555797
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T. Yamada K, et al. Among authors: taketani t. Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36406819 Free PMC article.
PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma.
Kalambe AS, Sugihara K, Yamamoto K, Kawano S, Oyama C, Taketani T, Hayashida K, Tanito M. Kalambe AS, et al. Among authors: taketani t. Case Rep Ophthalmol. 2023 Sep 22;14(1):477-483. doi: 10.1159/000533887. eCollection 2023 Jan-Dec. Case Rep Ophthalmol. 2023. PMID: 37901638 Free PMC article.
248 results