CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1 Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, ... Nature genetics 8 (3), 221-228, 1994 | 2164 | 1994 |
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease W Satake, Y Nakabayashi, I Mizuta, Y Hirota, C Ito, M Kubo, T Kawaguchi, ... Nature genetics 41 (12), 1303-1307, 2009 | 1575 | 2009 |
Mutations of optineurin in amyotrophic lateral sclerosis H Maruyama, H Morino, H Ito, Y Izumi, H Kato, Y Watanabe, Y Kinoshita, ... Nature 465 (7295), 223-226, 2010 | 1481 | 2010 |
Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells K Muguruma, A Nishiyama, H Kawakami, K Hashimoto, Y Sasai Cell reports 10 (4), 537-550, 2015 | 633 | 2015 |
Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease DM Maraganore, M De Andrade, A Elbaz, MJ Farrer, JP Ioannidis, ... Jama 296 (6), 661-670, 2006 | 620 | 2006 |
High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease H Tamura, H Kawakami, T Kanamoto, T Kato, T Yokoyama, K Sasaki, ... Journal of the neurological sciences 246 (1-2), 79-83, 2006 | 303 | 2006 |
Molecular features of the CAG repeats and clinical manifestation of Machado—Joseph disease H Maruyama, S Nakamura, Z Matsuyama, T Sakai, M Doyu, G Sobue, ... Human molecular genetics 4 (5), 807-812, 1995 | 258 | 1995 |
Lack of an association of estrogen receptor α gene polymorphisms and transcriptional activity with Alzheimer disease H Maruyama, H Toji, CR Harrington, K Sasaki, Y Izumi, T Ohnuma, H Arai, ... Archives of Neurology 57 (2), 236-240, 2000 | 203 | 2000 |
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6) Z Matsuyama, H Kawakami, H Maruyama, H Maruyama, Y Izumi, ... Human molecular genetics 6 (8), 1283-1287, 1997 | 190 | 1997 |
Sporadic ataxias in Japan–a population-based epidemiological study S Tsuji, O Onodera, J Goto, M Nishizawa, ... The Cerebellum 7, 189-197, 2008 | 175 | 2008 |
Characteristic magnetic resonance imaging findings in Machado-Joseph disease Y Murata, S Yamaguchi, H Kawakami, Y Imon, H Maruyama, T Sakai, ... Archives of neurology 55 (1), 33-37, 1998 | 165 | 1998 |
Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men N Inoue, R Maeda, H Kawakami, T Shokawa, H Yamamoto, C Ito, ... Circulation Journal 73 (3), 549-553, 2009 | 151 | 2009 |
Difference in disease‐free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients H Maruyama, Y Izumi, H Morino, M Oda, H Toji, S Nakamura, ... American journal of medical genetics 114 (5), 578-583, 2002 | 140 | 2002 |
Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis S Nakazawa, D Oikawa, R Ishii, T Ayaki, H Takahashi, H Takeda, ... Nature communications 7 (1), 12547, 2016 | 139 | 2016 |
Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6 Z Matsuyama, M Wakamori, Y Mori, H Kawakami, S Nakamura, K Imoto The Journal of Neuroscience 19 (12), RC14, 1999 | 138 | 1999 |
Structure and organization of the gene encoding human dopamine transporter T Kawarai, H Kawakami, Y Yamamura, S Nakamura Gene 195 (1), 11-18, 1997 | 126 | 1997 |
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features H Morino, SB Pierce, Y Matsuda, T Walsh, R Ohsawa, M Newby, ... Neurology 83 (22), 2054-2061, 2014 | 112 | 2014 |
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia H Morino, Y Matsuda, K Muguruma, R Miyamoto, R Ohsawa, T Ohtake, ... Molecular brain 8, 1-9, 2015 | 109 | 2015 |
Optineurin suppression causes neuronal cell death via NF‐κB pathway M Akizuki, H Yamashita, K Uemura, H Maruyama, H Kawakami, H Ito, ... Journal of neurochemistry 126 (6), 699-704, 2013 | 107 | 2013 |
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study A Elbaz, LM Nelson, H Payami, JPA Ioannidis, BK Fiske, G Annesi, ... The Lancet Neurology 5 (11), 917-923, 2006 | 104 | 2006 |