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Atsuo Kikuchi
Atsuo Kikuchi
Department of Pediatrics, Tohoku University Hospital
Verified email at umin.ac.jp
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Cited by
Year
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
F Kamada, Y Aoki, A Narisawa, YU Abe, S Komatsuzaki, A Kikuchi, ...
Journal of human genetics 56 (1), 34-40, 2011
5782011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
A Narisawa, S Komatsuzaki, A Kikuchi, T Niihori, Y Aoki, K Fujiwara, ...
Human molecular genetics 21 (7), 1496-1503, 2012
1312012
Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for …
S Sonobe, M Fujimura, K Niizuma, Y Nishijima, A Ito, H Shimizu, A Kikuchi, ...
Brain research 1552, 64-71, 2014
952014
Molecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencing
T Togawa, T Sugiura, K Ito, T Endo, K Aoyama, K Ohashi, Y Negishi, ...
The Journal of pediatrics 171, 171-177. e4, 2016
872016
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier, JA Lawson, W Tan, ...
Nature communications 9 (1), 1-14, 2018
822018
De novo GABRA1 mutations in Ohtahara and West syndromes
H Kodera, C Ohba, M Kato, T Maeda, K Araki, D Tajima, M Matsuo, ...
Epilepsia 57 (4), 566-573, 2016
732016
Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease
A Ito, M Fujimura, K Niizuma, A Kanoke, H Sakata, Y Morita-Fujimura, ...
Brain research 1594, 310-320, 2015
712015
Genomic analysis identifies masqueraders of full‐term cerebral palsy
Y Takezawa, A Kikuchi, K Haginoya, T Niihori, Y Numata‐Uematsu, T Inui, ...
Annals of clinical and translational neurology 5 (5), 538-551, 2018
602018
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
A Kikuchi, N Arai-Ichinoi, O Sakamoto, Y Matsubara, T Saheki, ...
Molecular genetics and metabolism 105 (4), 553-558, 2012
552012
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome
N Hino-Fukuyo, A Kikuchi, N Arai-Ichinoi, T Niihori, R Sato, T Suzuki, ...
Human genetics 134 (6), 649-658, 2015
522015
Biallelic GALM pathogenic variants cause a novel type of galactosemia
Y Wada, A Kikuchi, N Arai-Ichinoi, O Sakamoto, Y Takezawa, S Iwasawa, ...
Genetics in Medicine 21 (6), 1286-1294, 2019
432019
Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
M Uematsu, K Haginoya, A Kikuchi, N Hino-Fukuyo, K Ishii, T Shiihara, ...
Brain and Development 38 (9), 819-826, 2016
312016
Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma
M Kanamori, A Kikuchi, M Watanabe, I Shibahara, R Saito, Y Yamashita, ...
Journal of neurosurgery 120 (6), 1288-1297, 2014
312014
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy
N Arai-Ichinoi, M Uematsu, R Sato, T Suzuki, H Kudo, A Kikuchi, ...
Human genetics 135 (1), 89-98, 2016
302016
Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal‐sized platelets
M Ouchi‐Uchiyama, Y Sasahara, A Kikuchi, K Goi, T Nakane, M Ikeno, ...
Pediatric Blood & Cancer 62 (12), 2082-2088, 2015
302015
Targeted sequencing and immunological analysis reveal the involvement of primary immunodeficiency genes in pediatric IBD: a Japanese multicenter study
T Suzuki, Y Sasahara, A Kikuchi, H Kakuta, T Kashiwabara, T Ishige, ...
Journal of clinical immunology 37 (1), 67-79, 2017
262017
Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake
T Nakayama, S Tanaka, M Uematsu, A Kikuchi, N Hino-Fukuyo, ...
Brain and Development 36 (2), 143-147, 2014
252014
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
R Sato, N Arai‐Ichinoi, A Kikuchi, T Matsuhashi, Y Numata‐Uematsu, ...
Clinical genetics 93 (2), 242-247, 2018
242018
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
J Takayama, S Tadaka, K Yano, F Katsuoka, C Gocho, T Funayama, ...
Nature communications 12 (1), 1-14, 2021
232021
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
S Iwasawa, K Yanagi, A Kikuchi, Y Kobayashi, K Haginoya, H Matsumoto, ...
Annals of Neurology 85 (6), 927-933, 2019
232019
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