Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation M Kato, T Yamagata, M Kubota, H Arai, S Yamashita, T Nakagawa, T FujII, ... Epilepsia 54 (7), 1282-1287, 2013 | 256 | 2013 |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome K Nakamura, M Kato, H Osaka, S Yamashita, E Nakagawa, K Haginoya, ... Neurology 81 (11), 992-998, 2013 | 247 | 2013 |
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy K Nakamura, H Kodera, T Akita, M Shiina, M Kato, H Hoshino, ... The American Journal of Human Genetics 93 (3), 496-505, 2013 | 235 | 2013 |
Lipid peroxidation and concentration of glutathione in erythrocytes from workers exposed to lead. E Sugawara, K Nakamura, T Miyake, A Fukumura, Y Seki Occupational and Environmental Medicine 48 (4), 239-242, 1991 | 195 | 1991 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 194 | 2017 |
Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake, E Koshimizu, ... Cell reports 22 (3), 734-747, 2018 | 160 | 2018 |
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency K Kojima, T Nakajima, N Taga, A Miyauchi, M Kato, A Matsumoto, T Ikeda, ... Brain 142 (2), 322-333, 2019 | 137 | 2019 |
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay H Saitsu, R Fukai, B Ben-Zeev, Y Sakai, M Mimaki, N Okamoto, Y Suzuki, ... European Journal of Human Genetics 24 (1), 129-134, 2016 | 123 | 2016 |
Polarization-dependent resonant-x-ray diffraction in charge- and orbital-ordering phase of K Nakamura, T Arima, A Nakazawa, Y Wakabayashi, Y Murakami Physical Review B 60 (4), 2425, 1999 | 118 | 1999 |
De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy H Kodera, K Nakamura, H Osaka, Y Maegaki, K Haginoya, S Mizumoto, ... Human mutation 34 (12), 1708-1714, 2013 | 105 | 2013 |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy H Kodera, M Kato, AS Nord, T Walsh, M Lee, G Yamanaka, J Tohyama, ... Epilepsia 54 (7), 1262-1269, 2013 | 96 | 2013 |
Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia P Makrythanasis, M Kato, MS Zaki, H Saitsu, K Nakamura, FA Santoni, ... The American Journal of Human Genetics 98 (4), 615-626, 2016 | 89 | 2016 |
Serum and cerebrospinal fluid levels of cytokines in acute encephalopathy associated with human herpesvirus-6 infection T Ichiyama, Y Ito, M Kubota, T Yamazaki, K Nakamura, S Furukawa Brain and Development 31 (10), 731-738, 2009 | 88 | 2009 |
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy N Higurashi, M Nakamura, M Sugai, M Ohfu, M Sakauchi, Y Sugawara, ... Epilepsy research 106 (1-2), 191-199, 2013 | 67 | 2013 |
Search for a heavy neutral particle decaying into an electron and a muon using 1 fb−1 of ATLAS data ATLAS Collaboration atlas. publications@ cern. ch, G Aad, B Abbott, ... The European Physical Journal C 71, 1-17, 2011 | 58 | 2011 |
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy A Takata, M Nakashima, H Saitsu, T Mizuguchi, S Mitsuhashi, ... Nature communications 10 (1), 2506, 2019 | 56 | 2019 |
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels K Nakamura, H Osaka, Y Murakami, R Anzai, K Nishiyama, H Kodera, ... Epilepsia 55 (2), e13-e17, 2014 | 51 | 2014 |
Stability order in metal chelate compounds. I. 4-carboxy-and 4-sulfocatechol complexes Y Murakami, K Nakamura, M Tokunaga Bulletin of the Chemical Society of Japan 36 (6), 669-675, 1963 | 51 | 1963 |
Synthesis of aromatic polyimines by the condensation of aromatic dialdehyde and diamine K Suematsu, K Nakamura, J Takeda Colloid and Polymer Science 261, 493-501, 1983 | 48 | 1983 |
Polyimine, a C= N double bond containing polymers: synthesis and properties K Suematsu, K Nakamura, J Takeda Polymer Journal 15 (1), 71-79, 1983 | 45 | 1983 |