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Journal of Human Genetics
|
July 2, 2025
Molecular genetics of dystrophinopathy
Mariko Okubo
Brain and Nerve = Shinkei Kenkyu No Shinpo
|
August 9, 2022
[Development of Deep Convolutional Neural Network-Based Algorithm for Muscle Biopsy Diagnosis]
Mariko Okubo, Yoshinori Kabeya, Ichizo Nishino
Brain Pathology (Zurich, Switzerland)
|
June 1, 2023
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging
Jantima Tanboon, Rasha El Sherif, Michio Inoue, 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.
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.
Internal Medicine (Tokyo, Japan)
|
September 21, 2022
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy
Asami Munekane, Yutaka Ohsawa, Mariko Okubo, et al.
Journal of Human Genetics
|
February 26, 2016
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Mariko Okubo, Narihiro Minami, Kanako Goto, et al.
Human Mutation
|
November 27, 2021
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy
Kenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
Brain & Development
|
June 18, 2019
Association of inattention with slow-spindle density in sleep EEG of children with attention deficit-hyperactivity disorder
Yoshihiko Saito, Yoshimi Kaga, Eiji Nakagawa, et al.
The Journal of Biological Chemistry
|
November 14, 2020
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
Kenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
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of 3
Search research articles
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Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Journal of Human Genetics
|
July 2, 2025
Molecular genetics of dystrophinopathy
Mariko Okubo
Brain and Nerve = Shinkei Kenkyu No Shinpo
|
August 9, 2022
[Development of Deep Convolutional Neural Network-Based Algorithm for Muscle Biopsy Diagnosis]
Mariko Okubo, Yoshinori Kabeya, Ichizo Nishino
Brain Pathology (Zurich, Switzerland)
|
June 1, 2023
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging
Jantima Tanboon, Rasha El Sherif, Michio Inoue, 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.
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.
Internal Medicine (Tokyo, Japan)
|
September 21, 2022
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy
Asami Munekane, Yutaka Ohsawa, Mariko Okubo, et al.
Journal of Human Genetics
|
February 26, 2016
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Mariko Okubo, Narihiro Minami, Kanako Goto, et al.
Human Mutation
|
November 27, 2021
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy
Kenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
Brain & Development
|
June 18, 2019
Association of inattention with slow-spindle density in sleep EEG of children with attention deficit-hyperactivity disorder
Yoshihiko Saito, Yoshimi Kaga, Eiji Nakagawa, et al.
The Journal of Biological Chemistry
|
November 14, 2020
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
Kenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
Page
of 3