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Molecular Genetics & Genomic Medicine|December 24, 2021
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON)Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, et al.
Rinsho Shinkeigaku = Clinical Neurology|August 6, 2004
[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]Satoshi Kuru, Fumihiko Yasuma, Tadashi Wakayama, et al.
International Journal of Cardiology|January 29, 2005
Electron microscopic findings of cardiomyopathy with limb girdle muscular dystrophyKaoru Funabiki, Katsuya Onishi, Masaki Tanabe, et al.
The Journal of Investigative Dermatology|June 25, 2010
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptomsYoshito Takahashi, Yoko Endo, Yoshinori Sugiyama, et al.
Muscle & Nerve|February 10, 2023
The current status of medical care for myotonic dystrophy type 1 in the national registry of JapanKosuke Yamauchi, Tsuyoshi Matsumura, Hiroto Takada, et al.
Muscle & Nerve|December 8, 2022
Safety and immunogenicity of mRNA COVID-19 vaccine in inpatients with muscular dystrophyTomoko Saito, Toshio Saito, Hiroya Hashimoto, et al.
Rinsho Shinkeigaku = Clinical Neurology|January 21, 2020
[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey]Masanori P Takahashi, Risa Yamamoto, Tomoya Kubota, et al.
Journal of the Neurological Sciences|December 19, 2021
Characteristics of myotonic dystrophy patients in the national registry of JapanMarika Sugimoto, Satoshi Kuru, Hiroto Takada, et al.
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