| Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center Y Takeshima, M Yagi, YO Okizuka, H Awano, Z Zhang, Y Yamauchi, ... Journal of human genetics 55 (6), 379-388, 2010 | 294 | 2010 |
| Chemical treatment enhances skipping of a mutated exon in the dystrophin gene A Nishida, N Kataoka, Y Takeshima, M Yagi, H Awano, M Ota, K Itoh, ... Nature communications 2 (1), 308, 2011 | 106 | 2011 |
| Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients T Lee, Y Takeshima, N Kusunoki, H Awano, M Yagi, M Matsuo, K Iijima Journal of human genetics 59 (1), 46-50, 2014 | 70 | 2014 |
| A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4 EK Dwianingsih, Y Takeshima, K Itoh, Y Yamauchi, H Awano, ... Molecular genetics and metabolism 101 (2-3), 233-237, 2010 | 68 | 2010 |
| Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery C Qiao, CH Wang, C Zhao, P Lu, H Awano, B Xiao, J Li, Z Yuan, Y Dai, ... Molecular Therapy 22 (11), 1890-1899, 2014 | 54 | 2014 |
| High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy Y Takami, Y Takeshima, H Awano, Y Okizuka, M Yagi, M Matsuo Pediatric neurology 39 (6), 399-403, 2008 | 53 | 2008 |
| Fine metallic particles for magnetic domain observations O Kitakami, T Sakurai, Y Miyashita, Y Takeno, Y Shimada, H Takano, ... Japanese journal of applied physics 35 (3R), 1724, 1996 | 49 | 1996 |
| Pathogenic orphan transduction created by a nonreference LINE‐1 retrotransposon S Solyom, AD Ewing, DC Hancks, Y Takeshima, H Awano, M Matsuo, ... Human mutation 33 (2), 369-371, 2012 | 48 | 2012 |
| Association of dermatomyositis sine dermatitis with anti–nuclear matrix protein 2 autoantibodies M Inoue, J Tanboon, S Hirakawa, H Komaki, T Fukushima, H Awano, ... JAMA neurology 77 (7), 872-877, 2020 | 46 | 2020 |
| In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by+ 1G→ A mutations in introns of … Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, ... Journal of medical genetics 46 (8), 542-547, 2009 | 46 | 2009 |
| Cardiac dysfunction in Duchenne muscular dystrophy is less frequent in patients with mutations in the dystrophin Dp116 coding region than in other regions T Yamamoto, H Awano, Z Zhang, M Sakuma, S Kitaaki, M Matsumoto, ... Circulation: Genomic and Precision Medicine 11 (1), e001782, 2018 | 44 | 2018 |
| Diagnostic and clinical significance of the titin fragment in urine of Duchenne muscular dystrophy patients H Awano, M Matsumoto, M Nagai, T Shirakawa, N Maruyama, K Iijima, ... Clinica Chimica Acta 476, 111-116, 2018 | 39 | 2018 |
| A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old T Nakagawa, A Takeuchi, R Kakiuchi, T Lee, M Yagi, H Awano, K Iijima, ... Clinica Chimica Acta 423, 10-14, 2013 | 37 | 2013 |
| Detection of dystrophin Dp71 in human skeletal muscle using an automated capillary western assay system T Kawaguchi, ETE Niba, AQM Rani, Y Onishi, M Koizumi, H Awano, ... International journal of molecular sciences 19 (6), 1546, 2018 | 33 | 2018 |
| 2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping T Lee, H Awano, M Yagi, M Matsumoto, N Watanabe, R Goda, M Koizumi, ... Genes 8 (2), 67, 2017 | 33 | 2017 |
| Tissue-and case-specific retention of intron 40 in mature dystrophin mRNA A Nishida, M Minegishi, A Takeuchi, ETE Niba, H Awano, T Lee, K Iijima, ... Journal of human genetics 60 (6), 327-333, 2015 | 30 | 2015 |
| Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor T Hamaguchi, Y Hirota, T Takeuchi, Y Nakagawa, A Matsuoka, ... Journal of diabetes investigation 9 (5), 1224-1227, 2018 | 29 | 2018 |
| Spinal muscular atrophy: Diagnosis, incidence, and newborn screening in Japan T Kimizu, S Ida, K Okamoto, H Awano, ETE Niba, YOS Wijaya, S Okazaki, ... International journal of neonatal screening 7 (3), 45, 2021 | 28 | 2021 |
| Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age children K Maeyama, I Morioka, S Iwatani, S Fukushima, D Kurokawa, K Yamana, ... Scientific reports 6 (1), 38659, 2016 | 27 | 2016 |
| Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy H Komaki, Y Maegaki, T Matsumura, K Shiraishi, H Awano, A Nakamura, ... Annals of Clinical and Translational Neurology 7 (2), 181-190, 2020 | 26 | 2020 |
Rusdy Ghazali MaluekaDepartment of Neurology, Gadjah Mada UniversityVerified email at ugm.ac.id
