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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.
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.
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
845 results