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CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Kume K, et al. Among authors: izumi r, izumi y. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
An autopsy case involving a 12-year history of amyotrophic lateral sclerosis with CIDP-like polyneuropathy.
Akaishi T, Tateyama M, Kato K, Miura E, Izumi R, Endo K, Sugeno N, Suzuki N, Baba T, Misu T, Kikuchi A, Hasegawa T, Konosu-Fukaya S, Fujishima F, Suzuki H, Nakashima I, Aoki M. Akaishi T, et al. Among authors: izumi r. Intern Med. 2014;53(12):1371-5. doi: 10.2169/internalmedicine.53.0774. Epub 2014 Jun 15. Intern Med. 2014. PMID: 24930660 Free article.
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Izumi R, Niihori T, Suzuki N, Sasahara Y, Rikiishi T, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M. Izumi R, et al. Neuromuscul Disord. 2014 Dec;24(12):1068-72. doi: 10.1016/j.nmd.2014.07.008. Epub 2014 Aug 8. Neuromuscul Disord. 2014. PMID: 25257349
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M. Suzuki N, et al. Among authors: izumi r. Orphanet J Rare Dis. 2016 Nov 8;11(1):146. doi: 10.1186/s13023-016-0524-x. Orphanet J Rare Dis. 2016. PMID: 27821140 Free PMC article.
349 results