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Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H, Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I. Mori-Yoshimura M, et al. Among authors: nakamura h. J Neurol Sci. 2012 Jul 15;318(1-2):100-5. doi: 10.1016/j.jns.2012.03.016. Epub 2012 Apr 14. J Neurol Sci. 2012. PMID: 22507750
Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients.
Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, Kimura E, Takeda S. Takeuchi F, et al. Among authors: nakamura h. J Neurol. 2013 Dec;260(12):3023-9. doi: 10.1007/s00415-013-7104-y. Epub 2013 Sep 22. J Neurol. 2013. PMID: 24057148 Free PMC article.
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: nakamura h. 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.
[Remudy].
Kimura E, Nakamura H, Nishino I. Kimura E, et al. Among authors: nakamura h. Brain Nerve. 2014 Nov;66(11):1396-402. doi: 10.11477/mf.1416200045. Brain Nerve. 2014. PMID: 25407075 Review. Japanese.
[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN].
Kimura E, Nakamura H, Mitsuhashi S, Takeuchi F, Mori-Yoshimura M, Shimizu R, Komaki H, Hayashi YK, Nishino I, Kawai M, Takeda S. Kimura E, et al. Among authors: nakamura h. Rinsho Shinkeigaku. 2014;54(12):1069-70. doi: 10.5692/clinicalneurol.54.1069. Rinsho Shinkeigaku. 2014. PMID: 25519964 Review. Japanese.
Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy.
Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M. Ikeda K, et al. Among authors: nakamura h. J Clin Neuromuscul Dis. 2016 Jun;17(4):197-206. doi: 10.1097/CND.0000000000000115. J Clin Neuromuscul Dis. 2016. PMID: 27224434
10,441 results
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