Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
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.
Neuromuscular Disorders : NMD|October 17, 2024
Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorderAki Murayama, Utako Nagaoka, Keizo Sugaya, et al.
Orphanet Journal of Rare Diseases|January 4, 2025
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathyRui Shimazaki, Yoshihiko Saito, Tomonari Awaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 12, 2025
Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategiesSeung-Ah Lee, Megumu Ogawa, Yoshihiko Saito, et al.
Neuropathology and Applied Neurobiology|December 20, 2021
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathyMasashi Ogasawara, Nobuyuki Eura, Utako Nagaoka, et al.
Pageof 2