| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1296 | 2012 |
| Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial K Abe, M Aoki, S Tsuji, Y Itoyama, G Sobue, M Togo, C Hamada, ... The Lancet Neurology 16 (7), 505-512, 2017 | 672 | 2017 |
| Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease H Ishiura, S Shibata, J Yoshimura, Y Suzuki, W Qu, K Doi, MA Almansour, ... Nature genetics 51 (8), 1222-1232, 2019 | 304 | 2019 |
| Human genetic variation database, a reference database of genetic variations in the Japanese population K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, ... Journal of human genetics 61 (6), 547-553, 2016 | 290 | 2016 |
| Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy H Ishiura, K Doi, J Mitsui, J Yoshimura, MK Matsukawa, A Fujiyama, ... Nature genetics 50 (4), 581-590, 2018 | 287 | 2018 |
| Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy Multiple-System Atrophy Research Collaboration New England Journal of Medicine 369 (3), 233-244, 2013 | 256 | 2013 |
| CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 218 | 2016 |
| Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab H Ishiura, S Matsuda, M Higashihara, M Hasegawa, A Hida, R Hanajima, ... Neurology 71 (23), 1921-1923, 2008 | 196 | 2008 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 185 | 2012 |
| ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ... The American Journal of Human Genetics 93 (5), 900-905, 2013 | 169 | 2013 |
| Dominant mutations in RP1L1 are responsible for occult macular dystrophy M Akahori, K Tsunoda, Y Miyake, Y Fukuda, H Ishiura, S Tsuji, T Usui, ... The American Journal of Human Genetics 87 (3), 424-429, 2010 | 132 | 2010 |
| Variants associated with Gaucher disease in multiple system atrophy J Mitsui, T Matsukawa, H Sasaki, I Yabe, M Matsushima, A Dürr, A Brice, ... Annals of clinical and translational neurology 2 (4), 417-426, 2015 | 125 | 2015 |
| C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan H Ishiura, Y Takahashi, J Mitsui, S Yoshida, T Kihira, Y Kokubo, ... Archives of neurology 69 (9), 1154-1158, 2012 | 124 | 2012 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 122 | 2019 |
| The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement H Ishiura, W Sako, M Yoshida, T Kawarai, O Tanabe, J Goto, Y Takahashi, ... The American Journal of Human Genetics 91 (2), 320-329, 2012 | 121 | 2012 |
| Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 Y Higuchi, A Hashiguchi, J Yuan, A Yoshimura, J Mitsui, H Ishiura, ... Annals of neurology 79 (4), 659-672, 2016 | 101 | 2016 |
| Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 98 | 2013 |
| Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients A Ishii, Y Saito, J Mitsui, H Ishiura, J Yoshimura, H Arai, S Yamashita, ... PloS one 8 (2), e56120, 2013 | 95 | 2013 |
| Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 Z Cen, Z Jiang, Y Chen, X Zheng, F Xie, X Yang, X Lu, Z Ouyang, H Wu, ... Brain 141 (8), 2280-2288, 2018 | 89 | 2018 |
| A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) H Shimazaki, Y Takiyama, H Ishiura, C Sakai, Y Matsushima, ... Journal of medical genetics 49 (12), 777-784, 2012 | 87 | 2012 |
