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Yasushi Oya

Showing results (81-90 of 95) with videos related to

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Journal of Neuromuscular Diseases|May 1, 2023
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in JapanNaoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, et al.
Orphanet Journal of Rare Diseases|August 11, 2023
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in JapanMadoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, et al.
Acta Neuropathologica|December 13, 2022
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4Michio Inoue, Satoru Noguchi, Yukiko U Inoue, et al.
Journal of Translational Medicine|November 8, 2022
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencingYosuke Hiramuki, Yuriko Kure, 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.
Journal of the Neurological Sciences|April 18, 2012
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 mutationsMadoka Mori-Yoshimura, Kazunari Monma, Naoki Suzuki, et al.
Brain & Development|June 3, 2011
Decreased resting energy expenditure in patients with Duchenne muscular dystrophyMami Shimizu-Fujiwara, Hirofumi Komaki, Eiji Nakagawa, 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.
Rheumatology (Oxford, England)|November 8, 2016
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodiesWen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, et al.
Human Genetics|September 1, 2022
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathyMariko Okubo, Satoru Noguchi, Tomonari Awaya, et al.
Pageof 10

Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
Journal of Neuromuscular Diseases|May 1, 2023
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in JapanNaoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, et al.
Orphanet Journal of Rare Diseases|August 11, 2023
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in JapanMadoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, et al.
Acta Neuropathologica|December 13, 2022
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4Michio Inoue, Satoru Noguchi, Yukiko U Inoue, et al.
Journal of Translational Medicine|November 8, 2022
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencingYosuke Hiramuki, Yuriko Kure, 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.
Journal of the Neurological Sciences|April 18, 2012
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 mutationsMadoka Mori-Yoshimura, Kazunari Monma, Naoki Suzuki, et al.
Brain & Development|June 3, 2011
Decreased resting energy expenditure in patients with Duchenne muscular dystrophyMami Shimizu-Fujiwara, Hirofumi Komaki, Eiji Nakagawa, 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.
Rheumatology (Oxford, England)|November 8, 2016
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodiesWen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, et al.
Human Genetics|September 1, 2022
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathyMariko Okubo, Satoru Noguchi, Tomonari Awaya, et al.
Pageof 10