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Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.
Mukai T, Mori-Yoshimura M, Nishikawa A, Hokkoku K, Sonoo M, Nishino I, Takahashi Y. Mukai T, et al. Among authors: sonoo m. Muscle Nerve. 2019 Feb;59(2):E5-E7. doi: 10.1002/mus.26355. Epub 2018 Nov 13. Muscle Nerve. 2019. PMID: 30311943 No abstract available.
[Electrodiagnosis of ALS: its practical aspects].
Sonoo M, Higashihara M, Hokkoku K. Sonoo M, et al. Rinsho Shinkeigaku. 2011 Nov;51(11):1111-3. doi: 10.5692/clinicalneurol.51.1111. Rinsho Shinkeigaku. 2011. PMID: 22277500 Japanese.
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: sonoo m. 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
196 results