Mori-Yoshimura M - Search Results

1

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.

Komaki R, Hashimoto Y, Mori-Yoshimura M, Oya Y, Takizawa H, Minami N, Nishino I, Aoki Y, Takahashi Y. Komaki R, et al. J Hum Genet. 2020 Oct;65(10):903-909. doi: 10.1038/s10038-020-0788-9. Epub 2020 Jun 5. J Hum Genet. 2020. PMID: 32504006 Free PMC article.

2

[Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report].

Kondo Y, Mori-Yoshimura M, Hayashi YK, Oya Y, Satoh N, Nishino I, Murata M. Kondo Y, et al. Rinsho Shinkeigaku. 2010 Sep;50(9):661-5. doi: 10.5692/clinicalneurol.50.661. Rinsho Shinkeigaku. 2010. PMID: 20960933 Japanese.

3

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy.

Shimizu-Fujiwara M, Komaki H, Nakagawa E, Mori-Yoshimura M, Oya Y, Fujisaki T, Tokita Y, Kubota N, Shimazaki R, Sato K, Ishikawa T, Goto K, Mochizuki H, Takanoha S, Ogata K, Kawai M, Konagaya M, Miyazaki T, Tatara K, Sugai K, Sasaki M. Shimizu-Fujiwara M, et al. Brain Dev. 2012 Mar;34(3):206-12. doi: 10.1016/j.braindev.2011.05.005. Epub 2011 May 31. Brain Dev. 2012. PMID: 21632191

4

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M. Furusawa Y, et al. J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7. J Inherit Metab Dis. 2012. PMID: 21984055

5

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. 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

6

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, Nonaka I, Murata M, Nishino I. Mori-Yoshimura M, et al. Clin Neurol Neurosurg. 2012 Jul;114(6):678-83. doi: 10.1016/j.clineuro.2011.10.040. Epub 2012 May 19. Clin Neurol Neurosurg. 2012. PMID: 22613877

7

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).

Mori-Yoshimura M, Oya Y, Hayashi YK, Noguchi S, Nishino I, Murata M. Mori-Yoshimura M, et al. Neuromuscul Disord. 2013 Jan;23(1):84-8. doi: 10.1016/j.nmd.2012.09.007. Epub 2012 Nov 2. Neuromuscul Disord. 2013. PMID: 23127962

8

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda S, Kawai M. Nakamura H, et al. Orphanet J Rare Dis. 2013 Apr 19;8:60. doi: 10.1186/1750-1172-8-60. Orphanet J Rare Dis. 2013. PMID: 23601510 Free PMC article.

9

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. 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.

10

GNE myopathy: a prospective natural history study of disease progression.

Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M. Mori-Yoshimura M, et al. Neuromuscul Disord. 2014 May;24(5):380-6. doi: 10.1016/j.nmd.2014.02.008. Epub 2014 Feb 28. Neuromuscul Disord. 2014. PMID: 24656604

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