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Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H. Ando M, et al. Among authors: higuchi y. Ann Clin Transl Neurol. 2024 Jan;11(1):96-104. doi: 10.1002/acn3.51936. Epub 2023 Nov 2. Ann Clin Transl Neurol. 2024. PMID: 37916889 Free PMC article.
[Inherited Creutzfeldt-Jacob disease].
Higuchi Y, Takashima H. Higuchi Y, et al. Nihon Rinsho. 2011 Dec;69 Suppl 10 Pt 2:427-31. Nihon Rinsho. 2011. PMID: 22755228 Japanese. No abstract available.
Partial deficiency of emerin caused by a splice site mutation in EMD.
Yuan J, Ando M, Higuchi I, Sakiyama Y, Matsuura E, Michizono K, Watanabe O, Nagano S, Inamori Y, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H. Yuan J, et al. Among authors: higuchi i, higuchi y. Intern Med. 2014;53(14):1563-8. doi: 10.2169/internalmedicine.53.8922. Epub 2014 Jul 15. Intern Med. 2014. PMID: 25030574 Free article.
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.
Yamashita S, Mori A, Nishida Y, Kurisaki R, Tawara N, Nishikami T, Misumi Y, Ueyama H, Imamura S, Higuchi Y, Hashiguchi A, Higuchi I, Morishita S, Yoshimura J, Uchino M, Takashima H, Tsuji S, Ando Y. Yamashita S, et al. Among authors: higuchi y, higuchi i. Neuropathol Appl Neurobiol. 2015 Apr;41(3):391-8. doi: 10.1111/nan.12179. Neuropathol Appl Neurobiol. 2015. PMID: 25185957 No abstract available.
Extremely severe complicated spastic paraplegia 3A with neonatal onset.
Yonekawa T, Oya Y, Higuchi Y, Hashiguchi A, Takashima H, Sugai K, Sasaki M. Yonekawa T, et al. Among authors: higuchi y. Pediatr Neurol. 2014 Nov;51(5):726-9. doi: 10.1016/j.pediatrneurol.2014.07.027. Epub 2014 Jul 24. Pediatr Neurol. 2014. PMID: 25193411
1,708 results