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European Journal of Medical Genetics|April 28, 2026
COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical reportJun Shinmi, Hotake Takizawa, Yoshihiko Saito, et al.
Neuromuscular Disorders : NMD|April 9, 2025
Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysisTsuyoshi Matsumura, Hiroya Hashimoto, Hotake Takizawa, et al.
Annals of Clinical and Translational Neurology|November 19, 2025
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related MyopathiesRui Shimazaki, Satoru Noguchi, Hotake Takizawa, et al.
Journal of Human Genetics|June 7, 2020
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case reportRyouhei Komaki, Yasumasa Hashimoto, Madoka Mori-Yoshimura, et al.
Journal of the Neurological Sciences|February 21, 2021
Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cellsHotake Takizawa, Eri Takeshita, Mitsuto Sato, et al.
Journal of Neurology|September 27, 2020
Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositisKenichiro Taira, Toshiyuki Yamamoto, Madoka Mori-Yoshimura, et al.
Biochemical and Biophysical Research Communications|October 6, 2019
Amelioration of intracellular Ca2+ regulation by exon-45 skipping in Duchenne muscular dystrophy-induced pluripotent stem cell-derived cardiomyocytesMitsuto Sato, Naoko Shiba, Daigo Miyazaki, et al.
Muscle & Nerve|April 14, 2026
Spatiotemporal Patterns of Fat Replacement in SELENON-Related Myopathy: A Whole-Body Imaging StudyRui Shimazaki, Satoru Noguchi, Wakako Yoshioka, et al.
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