Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

3,297 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: murata 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
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. Among authors: murata m. 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
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: murata m. 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.
Respiratory and cardiac function in japanese patients with dysferlinopathy.
Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Mitsui J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M. Nishikawa A, et al. Among authors: murata m. Muscle Nerve. 2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27. Muscle Nerve. 2016. PMID: 26088049
Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.
Motoki T, Shimizu-Motohashi Y, Komaki H, Mori-Yoshimura M, Oya Y, Takeshita E, Ishiyama A, Saito T, Nakagawa E, Sugai K, Murata M, Sasaki M. Motoki T, et al. Among authors: murata m. Neuromuscul Disord. 2015 Oct;25(10):754-7. doi: 10.1016/j.nmd.2015.07.006. Epub 2015 Jul 29. Neuromuscul Disord. 2015. PMID: 26298609
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: murata m. J Neuromuscul Dis. 2018;5(2):193-203. doi: 10.3233/JND-170225. J Neuromuscul Dis. 2018. PMID: 29614690 Free PMC article.
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. Among authors: murata m. 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
3,297 results