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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.
A new congenital form of X-linked autophagic vacuolar myopathy.
Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Yan C, et al. Among authors: higuchi y. Neurology. 2005 Oct 11;65(7):1132-4. doi: 10.1212/01.wnl.0000178979.19887.f5. Neurology. 2005. PMID: 16217076
[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.
1,767 results