| Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease E Sidransky, MA Nalls, JO Aasly, J Aharon-Peretz, G Annesi, ER Barbosa, ... New England Journal of Medicine 361 (17), 1651-1661, 2009 | 2236 | 2009 |
| 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 | 307 | 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 | 291 | 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 | 288 | 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 | 257 | 2013 |
| Mutations for Gaucher disease confer high susceptibility to Parkinson disease J Mitsui, I Mizuta, A Toyoda, R Ashida, Y Takahashi, J Goto, Y Fukuda, ... Archives of neurology 66 (5), 571-576, 2009 | 242 | 2009 |
| 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 | 219 | 2016 |
| 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 |
| Two distinct mechanisms of augmented antitumor activity by modulation of immunostimulatory/inhibitory signals J Mitsui, H Nishikawa, D Muraoka, L Wang, T Noguchi, E Sato, S Kondo, ... Clinical Cancer Research 16 (10), 2781-2791, 2010 | 153 | 2010 |
| Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families K Hara, A Shiga, H Nozaki, J Mitsui, Y Takahashi, H Ishiguro, H Yomono, ... Neurology 71 (8), 547-551, 2008 | 148 | 2008 |
| 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 |
| 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 | 102 | 2016 |
| 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 |
| Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines J Mitsui, Y Takahashi, J Goto, H Tomiyama, S Ishikawa, H Yoshino, ... The American Journal of Human Genetics 87 (1), 75-89, 2010 | 89 | 2010 |
| Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan M Yamada, M Tanaka, M Takagi, S Kobayashi, Y Taguchi, S Takashima, ... Neurology 82 (8), 705-712, 2014 | 85 | 2014 |
| A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34 K Ozaki, H Doi, J Mitsui, N Sato, Y Iikuni, T Majima, K Yamane, T Irioka, ... JAMA neurology 72 (7), 797-805, 2015 | 82 | 2015 |
| Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson disease J Mitsui, Y Saito, T Momose, J Shimizu, N Arai, J Shibahara, Y Ugawa, ... Journal of the neurological sciences 243 (1-2), 101-104, 2006 | 82 | 2006 |
| A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2 T Isojima, K Doi, J Mitsui, Y Oda, E Tokuhiro, A Yasoda, T Yorifuji, ... Journal of Bone and Mineral Research 29 (4), 992-998, 2014 | 79 | 2014 |
