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American Journal of Human Genetics|April 10, 2002
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaEri Arikawa-Hirasawa, Alexander H Le, Ichizo Nishino, et al.Molecular and Cellular Biology|June 24, 2009
Ubiquitin ligase Cbl-b is a negative regulator for insulin-like growth factor 1 signaling during muscle atrophy caused by unloadingReiko Nakao, Katsuya Hirasaka, Jumpei Goto, et al.Muscle & Nerve|June 20, 2015
Respiratory and cardiac function in japanese patients with dysferlinopathyAtsuko Nishikawa, Madoka Mori-Yoshimura, Kazuhiko Segawa, et al.Neuromuscular Disorders : NMD|June 3, 2011
Inflammatory changes in infantile-onset LMNA-associated myopathyHirofumi Komaki, Yukiko K Hayashi, Rie Tsuburaya, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 26, 2014
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failureAkinori Uruha, Yukiko K Hayashi, Yasushi Oya, et al.American Journal of Human Genetics|December 27, 2016
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathySatoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, et al.American Journal of Human Genetics|June 14, 2011
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesisSatomi Mitsuhashi, Aya Ohkuma, Beril Talim, et al.Brain & Development|January 26, 2020
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and OceaniaFumi Takeuchi, Harumasa Nakamura, Naohiro Yonemoto, et al.Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.Pageof 17