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Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group; Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Kumutpongpanich T, et al. Among authors: sasaki o, sasaki r. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. JAMA Neurol. 2021. PMID: 34047774 Free PMC article.
A new familial distal myopathy in Japan with predominant upper extremities.
Takahashi Y, Ohta Y, Sasaki R, Tadokoro K, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nishino I, Abe K. Takahashi Y, et al. Among authors: sasaki r. J Neurol Sci. 2018 Jul 15;390:205-207. doi: 10.1016/j.jns.2018.04.008. Epub 2018 Apr 7. J Neurol Sci. 2018. PMID: 29801888 No abstract available.
TTN missense variants in two siblings with asymmetric facial and limb weakness.
Sasaki R, Ohta Y, Tadokoro K, Matsumoto N, Nomura E, Omote Y, Takemoto M, Hishikawa N, Yamashita T, Kumutpongpanich T, Nishino I, Abe K. Sasaki R, et al. J Neurol Sci. 2020 Aug 15;415:116885. doi: 10.1016/j.jns.2020.116885. Epub 2020 May 7. J Neurol Sci. 2020. PMID: 32464347 No abstract available.
Neurolymphomatosis in the Cauda Equina Diagnosed by an Open Biopsy.
Sasaki R, Ohta Y, Yamada Y, Tadokoro K, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Yasuhara T, Date I, Ikegawa S, Fujii N, Abe K. Sasaki R, et al. Intern Med. 2018 Dec 1;57(23):3463-3465. doi: 10.2169/internalmedicine.1049-18. Epub 2018 Aug 10. Intern Med. 2018. PMID: 30101916 Free PMC article.
1,534 results