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Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori S, Miyauchi A, Osaka H, Lourenco CM, Arakaki N, Sengoku T, Ogata K, Honjo RS, Kim CA, Mitsuhashi S, Frith MC, Seyama R, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Saito K, Fujita A, Matsumoto N. Ohori S, et al. Among authors: mitsuhashi s. Life Sci Alliance. 2023 Jun 7;6(8):e202302025. doi: 10.26508/lsa.202302025. Print 2023 Aug. Life Sci Alliance. 2023. PMID: 37286232 Free PMC article.
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.
Tsujikawa K, Hamanaka K, Riku Y, Hattori Y, Hara N, Iguchi Y, Ishigaki S, Hashizume A, Miyatake S, Mitsuhashi S, Miyazaki Y, Kataoka M, Jiayi L, Yasui K, Kuru S, Koike H, Kobayashi K, Sahara N, Ozaki N, Yoshida M, Kakita A, Saito Y, Iwasaki Y, Miyashita A, Iwatsubo T; Japanese Alzheimer’s Disease Neuroimaging Initiative (J-ADNI); Ikeuchi T; Japanese Longitudinal Biomarker Study in PSP and CBD (JALPAC) Consortium; Miyata T, Sobue G, Matsumoto N, Sahashi K, Katsuno M. Tsujikawa K, et al. Among authors: mitsuhashi s. Sci Adv. 2022 May 27;8(21):eabm5029. doi: 10.1126/sciadv.abm5029. Epub 2022 May 25. Sci Adv. 2022. PMID: 35613261 Free PMC article.
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S, Lei M, Nakagawa E, Takeshita E, Inamori KI, Shishido F, Sasaki M, Mitsuhashi S, Matsumoto N, Kimura Y, Iwasaki M, Takahashi Y, Mizusawa H, Migita O, Ohno I, Inokuchi JI. Watanabe S, et al. Among authors: mitsuhashi s. Brain Dev. 2023 May;45(5):270-277. doi: 10.1016/j.braindev.2023.01.002. Epub 2023 Jan 21. Brain Dev. 2023. PMID: 36690566
Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias.
Takao N, Yagishita N, Araya N, Aratani S, Yamauchi J, Takahashi K, Kunitomo Y, Sato T, Nakamori M, Kawai Y, Omae Y, Tokunaga K, Matsuda F, Mitsuhashi S, Yamano Y. Takao N, et al. Among authors: mitsuhashi s. Neurol Genet. 2024 Jan 29;10(1):e200108. doi: 10.1212/NXG.0000000000200108. eCollection 2024 Feb. Neurol Genet. 2024. PMID: 38716326 Free PMC article.
Miller-Fisher Syndrome Following Influenza A Infection.
Mitsuhashi S, Suzuki A, Hayashi K, Sato M, Nakaya Y, Takaku N, Kobayashi Y. Mitsuhashi S, et al. Cureus. 2024 Mar 12;16(3):e56064. doi: 10.7759/cureus.56064. eCollection 2024 Mar. Cureus. 2024. PMID: 38618457 Free PMC article.
849 results