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SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T. Naruse H, et al. Among authors: takiyama y. Ann Clin Transl Neurol. 2024 Apr;11(4):946-957. doi: 10.1002/acn3.52013. Epub 2024 Feb 5. Ann Clin Transl Neurol. 2024. PMID: 38316966 Free PMC article.
[A case of ataxic gait disturbance due to 1-bromopropane neurotoxicity].
Morishima Y, Fukao T, Tsuchiya M, Hata T, Shindo K, Takiyama Y. Morishima Y, et al. Among authors: takiyama y. Rinsho Shinkeigaku. 2023 Jan 28;63(1):27-30. doi: 10.5692/clinicalneurol.cn-001799. Epub 2022 Dec 24. Rinsho Shinkeigaku. 2023. PMID: 36567103 Japanese.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: takiyama y. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Ubap1 knock-in mice reproduced the phenotype of SPG80.
Shimozono K, Nan H, Hata T, Saito K, Kim YJ, Nagatomo H, Ohtsuka T, Koizumi S, Takiyama Y. Shimozono K, et al. Among authors: takiyama y. J Hum Genet. 2022 Dec;67(12):679-686. doi: 10.1038/s10038-022-01073-6. Epub 2022 Aug 12. J Hum Genet. 2022. PMID: 35962060 Free PMC article.
A maternal high-fat diet induces fetal origins of NASH-HCC in mice.
Takiyama T, Sera T, Nakamura M, Hoshino M, Uesugi K, Horike SI, Meguro-Horike M, Bessho R, Takiyama Y, Kitsunai H, Takeda Y, Sawamoto K, Yagi N, Nishikawa Y, Takiyama Y. Takiyama T, et al. Among authors: takiyama y. Sci Rep. 2022 Jul 30;12(1):13136. doi: 10.1038/s41598-022-17501-8. Sci Rep. 2022. PMID: 35907977 Free PMC article.
247 results