M. Okubo

Most-cited papers

1. Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

   M. Okubo, N. Minami, K. Goto, Y. Goto +3 more

   2016Journal of Human Genetics110 citations Open access

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2. Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

   M. Okubo, K. Goto, H. Komaki, Harumasa Nakamura +6 more

   2017Orphanet Journal of Rare Diseases49 citations Open access

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3. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

   M. Okubo, Atsushi Fujita, Yoshiaki Saito, H. Komaki +13 more

   2015American Journal of Medical Genetics. Part A43 citations

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4. Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

   M. Okubo, S. Noguchi, S. Hayashi, Harumasa Nakamura +3 more

   2020Human Genetics38 citations Open access

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5. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

   K. Hamanaka, S. Miyatake, Eriko Koshimizu, Y. Tsurusaki +18 more

   2018Genetics in Medicine37 citations Open access

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6. Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases

   M. Inoue, J. Tanboon, M. Okubo, K. Theerawat +8 more

   2019Neuropathology and Applied Neurobiology31 citations

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7. RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

   M. Okubo, S. Noguchi, Tomonari Awaya, Motoyasu Hosokawa +22 more

   2022Human Genetics28 citations

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8. Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy

   Kenshiro Fujise, M. Okubo, Tadashi Abe, Hiroshi Yamada +4 more

   2020Journal of Biological Chemistry27 citations Open access

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9. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia

   Toshiko Yamada, A. Tachibana, Takashi Shimizu, H. Mugishima +2 more

   2000Journal of Human Genetics26 citations

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10. Whole genome sequencing of 45 Japanese patients with intellectual disability

    Chihiro Abe-Hatano, A. Iida, Shunichi Kosugi, Y. Momozawa +25 more

    2021American Journal of Medical Genetics. Part A21 citations Open access

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11. Deep convolutional neural network-based algorithm for muscle biopsy diagnosis

    Y. Kabeya, M. Okubo, S. Yonezawa, H. Nakano +15 more

    2021Laboratory Investigation15 citations Open access

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12. Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

    W. Yoshioka, A. Iida, K. Sonehara, Kazuki Z. Yamamoto +13 more

    2022Scientific Reports10 citations Open access

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13. Characteristic findings of skeletal muscle MRI in caveolinopathies.

    K. Ishiguro, T. Nakayama, M. Yoshioka, T. Murakami +12 more

    2018Neuromuscular Disorders9 citations

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14. Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants

    Tetsuya Okazaki, Kaori Matsuura, N. Kasagi, K. Adachi +5 more

    2020Human Genome Variation7 citations Open access

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15. Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy

    Kenshiro Fujise, M. Okubo, Tadashi Abe, Hiroshi Yamada +4 more

    2021bioRxiv6 citations Open access

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16. Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.

    A. Cotta, E. Carvalho, A. da-Cunha-Júnior, M. Navarro +11 more

    2020Journal of Neurological Sciences6 citations

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17. Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

    A. Nishikawa, A. Iida, S. Hayashi, M. Okubo +6 more

    2019Molecular Genetics & Genomic Medicine6 citations Open access

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18. Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developing during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report.

    M. Mouri, T. Kanamori, Eriko Tanaka, Kanako Hiratoko +7 more

    2022Modern Rheumatology Case Reports5 citations

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19. TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis

    Y. Nishimori, A. Iida, M. Ogasawara, M. Okubo +5 more

    2021Neurology: Genetics5 citations Open access

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20. Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.

    M. Okubo, A. Iida, S. Hayashi, M. Mori-Yoshimura +6 more

    2018Journal of Neurological Sciences5 citations

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21. A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin

    Yasuteru Sano, Satoko Ota, Mariko Oishi, M. Honda +5 more

    2021Internal medicine3 citations Open access

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22. Mild form of Danon disease: two case reports.

    T. Yasui, U. Nagaoka, Y. Oya, A. Uruha +10 more

    2021Neuromuscular Disorders3 citations Open access

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23. A deep convolutional neural network-based algorithm for muscle biopsy diagnosis outperforms human specialists

    Y. Kabeya, M. Okubo, S. Yonezawa, H. Nakano +15 more

    2020medRxiv3 citations Open access

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24. A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging

    J. Tanboon, R. El Sherif, M. Inoue, M. Okubo +2 more

    2023Brain Pathology2 citations Open access

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25. Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy

    Asami Munekane, Y. Ohsawa, M. Okubo, T. Nagai +3 more

    2022Internal medicine2 citations Open access

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26. Physician-Level Aggregated Classifier for Genetic Muscle Disorders

    Y. Kabeya, T. Iwamori, S. Yonezawa, Y. Takeuchi +8 more

    2019IEEE International Symposium on Biomedical Imaging2 citations

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27. Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel ETFDH mutation shows progressive muscle weakness and rhabdomyolysis

    Yusuke Seino, Takumi Nakamura, T. Kawarabayashi, Y. Wakasaya +4 more

    20181 citations

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28. Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

    M. Okubo, N. Minami, K. Goto, Y. Goto +3 more

    2017Journal of Human Genetics1 citations Open access

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29. P.20 - Comprehensive analysis: Nonsense mutation induced exon skipping in Becker muscular dystrophy

    M. Okubo, Satoru Noguchi, En Kimura, S. Mitsuhashi +1 more

    20171 citations

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30. [Development of Deep Convolutional Neural Network-Based Algorithm for Muscle Biopsy Diagnosis].

    M. Okubo, Y. Kabeya, I. Nishino

    2022Brain and nerve = Shinkei kenkyu no shinpo0 citations

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31. DISTAL MYOPATHIES

    W. Yoshioka, K. Sonehara, A. Iida, Y. Oya +11 more

    2021Neuromuscular Disorders0 citations

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32. DMD/BMD - GENETICS

    M. Okubo, S. Noguchi, S. Hayashi, H. Komaki +1 more

    2021Neuromuscular Disorders0 citations

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33. Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.

    Kenshiro Fujise, M. Okubo, Tadashi Abe, Hiroshi Yamada +4 more

    2020Journal of Biological Chemistry0 citations Open access

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34. AUTOIMMUNE MYOPATHIES

    Y. Chen, M. Inoue, M. Ogasawara, Y. Saito +8 more

    2020Neuromuscular Disorders0 citations

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35. OMICs AND AI APPROACHES FOR MUSCLE DISEASES

    Y. Kabeya, M. Okubo, S. Yonezawa, H. Nakano +11 more

    2020Neuromuscular Disorders0 citations

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36. O.37AI-based muscle histopathologist can differentiate major muscular dystrophies better than human

    Yoshinori Kabeya, T. Iwamori, S. Yonezawa, Y. Takeuchi +8 more

    2019Neuromuscular Disorders0 citations

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37. EP.31Characteristic findings of skeletal muscle MRI in caveolinopathies

    K. Ishiguro, T. Nakayama, M. Yoshioka, T. Murakami +12 more

    2019Neuromuscular Disorders0 citations

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38. P.344Assessment of longitudinal developmental milestones in Fukuyama congenital muscular dystrophy

    Y. Shimizu-Motohashi, E. Takeshita, A. Ishiyama, M. Mori-Yoshimura +8 more

    2019Neuromuscular Disorders0 citations

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39. EP.102Genetic diagnosis in large Japanese cohort using targeted re-sequencing system

    M. Okubo, A. Iida, M. Inoue, Yoshiaki Saito +4 more

    2019Neuromuscular Disorders0 citations

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40. P.106Mutation-specific therapy for X-linked myotubular myopathy

    Shinichiro Hayashi, S. Noguchi, T. Kumutpongpanich, A. Iida +3 more

    2019Neuromuscular Disorders0 citations

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41. P.89Infantile-onset lipid storage myopathy

    L. Indrawati, S. Noguchi, J. Tanboon, M. Ogasawara +10 more

    2019Neuromuscular Disorders0 citations

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42. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

    M. Okubo, S. Noguchi, S. Hayashi, M. Matsuo +1 more

    2018Neuromuscular Disorders0 citations

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43. CONGENITAL MYOPATHIES (CNM)

    T. Kumutpongpanich, Shinichiro Hayashi, A. Iida, M. Okubo +3 more

    2018Neuromuscular Disorders0 citations

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44. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

    Y. Kabeya, Y. Takeuchi, H. Nakano, M. Okubo +7 more

    2018Neuromuscular Disorders0 citations

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45. G.P.262

    M. Okubo, A. Ishiyama, H. Komaki, E. Takeshita +7 more

    20140 citations

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