フォロー
Kazuyuki Nakamura
Kazuyuki Nakamura
MD
確認したメール アドレス: umin.ac.jp - ホームページ
タイトル
引用先
引用先
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
2562013
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
2472013
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
2352013
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
1951991
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
1942017
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
1602018
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
1372019
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
1232016
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
1181999
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
1052013
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
962013
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
892016
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
882009
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
672013
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
582011
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
562019
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
512014
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
511963
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
481983
Polyimine, a C= N double bond containing polymers: synthesis and properties
K Suematsu, K Nakamura, J Takeda
Polymer Journal 15 (1), 71-79, 1983
451983
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