The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 705 | 2015 |
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro A Tanaka, K Woltjen, K Miyake, A Hotta, M Ikeya, T Yamamoto, T Nishino, ... PloS one 8 (4), e61540, 2013 | 250 | 2013 |
Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 158 | 2017 |
Comparison of the added value of contrast-enhanced 3D fluid-attenuated inversion recovery and magnetization-prepared rapid acquisition of gradient echo sequences in relation to … H Fukuoka, T Hirai, T Okuda, Y Shigematsu, A Sasao, E Kimura, T Hirano, ... American Journal of Neuroradiology 31 (5), 868-873, 2010 | 134 | 2010 |
Stable transduction of myogenic cells with lentiviral vectors expressing a minidystrophin S Li, E Kimura, BM Fall, M Reyes, JC Angello, R Welikson, SD Hauschka, ... Gene therapy 12 (14), 1099-1108, 2005 | 130 | 2005 |
The TREAT‐NMD D uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia CL Bladen, K Rafferty, V Straub, S Monges, A Moresco, H Dawkins, A Roy, ... Human mutation 34 (11), 1449-1457, 2013 | 109 | 2013 |
Female dystrophinopathy: Review of current literature M Ishizaki, M Kobayashi, K Adachi, T Matsumura, E Kimura Neuromuscular Disorders 28 (7), 572-581, 2018 | 108 | 2018 |
Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy E Kimura, JJ Han, S Li, B Fall, J Ra, M Haraguchi, SJ Tapscott, ... Human molecular genetics 17 (16), 2507-2517, 2008 | 92 | 2008 |
Dystrophin delivery to muscles of mdx mice using lentiviral vectors leads to myogenic progenitor targeting and stable gene expression E Kimura, S Li, P Gregorevic, BM Fall, JS Chamberlain Molecular Therapy 18 (1), 206-213, 2010 | 87 | 2010 |
Mdx respiratory impairment following fibrosis of the diaphragm M Ishizaki, T Suga, E Kimura, T Shiota, R Kawano, Y Uchida, K Uchino, ... Neuromuscular Disorders 18 (4), 342-348, 2008 | 82 | 2008 |
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy) H Nakamura, E Kimura, M Mori-Yoshimura, H Komaki, Y Matsuda, K Goto, ... Orphanet journal of rare diseases 8, 1-7, 2013 | 70 | 2013 |
A highly functional mini-dystrophin / GFP fusion gene for cell and gene therapy studies of Duchenne muscular dystrophy S Li, E Kimura, R Ng, BM Fall, L Meuse, M Reyes, JA Faulkner, ... Human molecular genetics 15 (10), 1610-1622, 2006 | 66 | 2006 |
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan T Saito, M Kawai, EN Kimura, K Ogata, T Takahashi, M Kobayashi, ... Neuromuscular disorders 27 (2), 107-114, 2017 | 61 | 2017 |
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature H Sakaguchi, A Ueda, T Kosaka, S Yamashita, E Kimura, T Yamashita, ... Journal of Neuroinflammation 8, 1-10, 2011 | 59 | 2011 |
Nationwide patient registry for GNE myopathy in Japan M Mori-Yoshimura, YK Hayashi, N Yonemoto, H Nakamura, M Murata, ... Orphanet journal of rare diseases 9, 1-9, 2014 | 55 | 2014 |
Full‐length dystrophin cDNA transfer into skeletal muscle of adult mdx mice by electroporation T Murakami, T Nishi, E Kimura, T Goto, Y Maeda, Y Ushio, M Uchino, ... Muscle & Nerve: Official Journal of the American Association of …, 2003 | 55 | 2003 |
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 |
Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients F Takeuchi, N Yonemoto, H Nakamura, R Shimizu, H Komaki, ... Journal of neurology 260, 3023-3029, 2013 | 48 | 2013 |
DJ‐1 forms complexes with mutant SOD1 and ameliorates its toxicity S Yamashita, A Mori, E Kimura, S Mita, Y Maeda, T Hirano, M Uchino Journal of neurochemistry 113 (4), 860-870, 2010 | 47 | 2010 |
Transduction of full-length dystrophin to multiple skeletal muscles improves motor performance and life span in utrophin/dystrophin double knockout mice R Kawano, M Ishizaki, Y Maeda, Y Uchida, E Kimura, M Uchino Molecular Therapy 16 (5), 825-831, 2008 | 46 | 2008 |