Search research articles
Contact Us
Filters
Showing results (41-50 of 170) with videos related to
Page
of 17
Sort By:
Human Molecular Genetics
|
May 16, 2017
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy
Anna Cho, May Christine, V Malicdan, et al.
Neuromuscular Disorders : NMD
|
November 21, 2025
Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features
Rui Shimazaki, Satoru Noguchi, Wakako Yoshioka, et al.
Human Genetics
|
January 11, 2020
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2021
Causative variant profile of collagen VI-related dystrophy in Japan
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, et al.
Journal of Human Genetics
|
September 26, 2017
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Mariko Okubo, Narihiro Minami, Kanako Goto, et al.
Neuromuscular Disorders : NMD
|
November 7, 2012
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)
Madoka Mori-Yoshimura, Yasushi Oya, Yukiko K Hayashi, et al.
Neurology
|
December 16, 2014
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan
Mingrui Dong, Satoru Noguchi, Yukari Endo, et al.
Journal of Biochemistry
|
June 24, 2004
Subcellular localization of fukutin and fukutin-related protein in muscle cells
Hiroshi Matsumoto, Satoru Noguchi, Kazuma Sugie, et al.
Inorganic Chemistry
|
July 23, 2008
Fe2OCl6(2-) salt formed by electrochemical oxidation of ethylenedioxytetrathiafulvalenoquinone-1,3-dithiolemethide in the presence of FeCl4- ion with a silicon wafer electrode
Tadahiro Koike, Sayo Yokota, Hideki Fujiwara, et al.
Neuromuscular Disorders : NMD
|
October 28, 2008
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
Sherine Shalaby, Yukiko K Hayashi, Kanako Goto, et al.
Page
of 17
Search research articles
Search
Showing results (41-50 of 170) with videos related to
Sort By:
Page
of 17
Human Molecular Genetics
|
May 16, 2017
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy
Anna Cho, May Christine, V Malicdan, et al.
Neuromuscular Disorders : NMD
|
November 21, 2025
Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features
Rui Shimazaki, Satoru Noguchi, Wakako Yoshioka, et al.
Human Genetics
|
January 11, 2020
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2021
Causative variant profile of collagen VI-related dystrophy in Japan
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, et al.
Journal of Human Genetics
|
September 26, 2017
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Mariko Okubo, Narihiro Minami, Kanako Goto, et al.
Neuromuscular Disorders : NMD
|
November 7, 2012
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)
Madoka Mori-Yoshimura, Yasushi Oya, Yukiko K Hayashi, et al.
Neurology
|
December 16, 2014
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan
Mingrui Dong, Satoru Noguchi, Yukari Endo, et al.
Journal of Biochemistry
|
June 24, 2004
Subcellular localization of fukutin and fukutin-related protein in muscle cells
Hiroshi Matsumoto, Satoru Noguchi, Kazuma Sugie, et al.
Inorganic Chemistry
|
July 23, 2008
Fe2OCl6(2-) salt formed by electrochemical oxidation of ethylenedioxytetrathiafulvalenoquinone-1,3-dithiolemethide in the presence of FeCl4- ion with a silicon wafer electrode
Tadahiro Koike, Sayo Yokota, Hideki Fujiwara, et al.
Neuromuscular Disorders : NMD
|
October 28, 2008
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
Sherine Shalaby, Yukiko K Hayashi, Kanako Goto, et al.
Page
of 17