| Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations M Okubo, N Minami, K Goto, Y Goto, S Noguchi, S Mitsuhashi, I Nishino Journal of human genetics 61 (6), 483-489, 2016 | 115 | 2016 |
| Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan M Okubo, K Goto, H Komaki, H Nakamura, M Mori-Yoshimura, ... Orphanet journal of rare diseases 12, 1-7, 2017 | 49 | 2017 |
| A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation M Okubo, A Fujita, Y Saito, H Komaki, A Ishiyama, E Takeshita, E Kojima, ... American journal of medical genetics Part A 167 (5), 1100-1106, 2015 | 48 | 2015 |
| Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy M Okubo, S Noguchi, S Hayashi, H Nakamura, H Komaki, M Matsuo, ... Human genetics 139, 247-255, 2020 | 41 | 2020 |
| RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy K Hamanaka, S Miyatake, E Koshimizu, Y Tsurusaki, S Mitsuhashi, ... Genetics in Medicine 21 (7), 1629-1638, 2019 | 41 | 2019 |
| Association of inattention with slow-spindle density in sleep EEG of children with attention deficit-hyperactivity disorder Y Saito, Y Kaga, E Nakagawa, M Okubo, K Kohashi, M Omori, A Fukuda, ... Brain and development 41 (9), 751-759, 2019 | 34 | 2019 |
| 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, Y Saito, M Ogasawara, ... Neuropathology and applied neurobiology 45 (5), 523-524, 2019 | 31 | 2019 |
| Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy K Fujise, M Okubo, T Abe, H Yamada, I Nishino, S Noguchi, K Takei, ... Journal of Biological Chemistry 296, 2021 | 23 | 2021 |
| Whole genome sequencing of 45 Japanese patients with intellectual disability C Abe‐Hatano, A Iida, S Kosugi, Y Momozawa, C Terao, K Ishikawa, ... American Journal of Medical Genetics Part A 185 (5), 1468-1480, 2021 | 18 | 2021 |
| 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, T Awaya, M Hosokawa, N Tsukui, M Ogawa, ... Human genetics 142 (1), 59-71, 2023 | 17 | 2023 |
| Deep convolutional neural network-based algorithm for muscle biopsy diagnosis Y Kabeya, M Okubo, S Yonezawa, H Nakano, M Inoue, M Ogasawara, ... Laboratory Investigation 102 (3), 220-226, 2022 | 12 | 2022 |
| Characteristic findings of skeletal muscle MRI in caveolinopathies K Ishiguro, T Nakayama, M Yoshioka, T Murakami, S Kajino, M Shichiji, ... Neuromuscular Disorders 28 (10), 857-862, 2018 | 10 | 2018 |
| Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants T Okazaki, K Matsuura, N Kasagi, K Adachi, M Kai, M Okubo, I Nishino, ... Human genome variation 7 (1), 12, 2020 | 6 | 2020 |
| 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, Y Oya, A Watanabe, ... Journal of the Neurological Sciences 395, 169-171, 2018 | 6 | 2018 |
| Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy K Fujise, M Okubo, T Abe, H Yamada, K Takei, I Nishino, T Takeda, ... Human mutation 43 (2), 169-179, 2022 | 5 | 2022 |
| 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, K Yamamoto, Y Oya, M Mori-Yoshimura, ... Scientific Reports 12 (1), 21806, 2022 | 4 | 2022 |
| A Japanese patient with hereditary myopathy with early respiratory failure due to the p. P31732L mutation of Titin Y Sano, S Ota, M Oishi, M Honda, M Omoto, M Kawai, M Okubo, I Nishino, ... Internal Medicine 61 (10), 1587-1592, 2022 | 4 | 2022 |
| Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy A Nishikawa, A Iida, S Hayashi, M Okubo, Y Oya, G Yamanaka, ... Molecular Genetics & Genomic Medicine 7 (5), e621, 2019 | 4 | 2019 |
| Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families A Cotta, E Carvalho, AL da-Cunha-Junior, MM Navarro, MM Menezes, ... Journal of the neurological sciences 415, 116977, 2020 | 3 | 2020 |
| O03 In vivo gene therapy for striated muscle laminopathy M Okubo, A Brull, M Beuvin, N Mougenot, V Paradis, G Bonne, A Bertrand Neuromuscular Disorders 33, S67, 2023 | 2 | 2023 |
Ichizo NISHINODirector, Department of Neuromuscular Research, National Institute of Neuroscience, NCNP在 ncnp.go.jp 的电子邮件经过验证
