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Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. Among authors: kimura e. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.
Tongue strength in patients with subacute myelo-optico-neuropathy.
Yamashita S, Nakama T, Ueda M, Honda S, Kimura E, Konagaya M, Ando Y. Yamashita S, et al. Among authors: kimura e. J Clin Neurosci. 2018 Jan;47:84-88. doi: 10.1016/j.jocn.2017.10.007. Epub 2017 Oct 17. J Clin Neurosci. 2018. PMID: 29054330
Nationwide patient registry for GNE myopathy in Japan.
Mori-Yoshimura M, Hayashi YK, Yonemoto N, Nakamura H, Murata M, Takeda S, Nishino I, Kimura E. Mori-Yoshimura M, et al. Among authors: kimura e. Orphanet J Rare Dis. 2014 Oct 11;9:150. doi: 10.1186/s13023-014-0150-4. Orphanet J Rare Dis. 2014. PMID: 25303967 Free PMC article.
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.
Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E. Mori-Yoshimura M, et al. Among authors: kimura e. J Neuromuscul Dis. 2018;5(2):193-203. doi: 10.3233/JND-170225. J Neuromuscul Dis. 2018. PMID: 29614690 Free PMC article.
Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions.
Tawara N, Yamashita S, Kawakami K, Kurashige T, Zhang Z, Tasaki M, Yamamoto Y, Nishikami T, Doki T, Zhang X, Matsuo Y, Kimura E, Tawara A, Maeda Y, Hauschka SD, Maruyama H, Ando Y. Tawara N, et al. Among authors: kimura e. Exp Neurol. 2018 Nov;309:169-180. doi: 10.1016/j.expneurol.2018.08.006. Epub 2018 Aug 18. Exp Neurol. 2018. PMID: 30130494
916 results