| 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 |
| 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 |
| Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus R Guerrini, F Moro, M Kato, AJ Barkovich, T Shiihara, MA McShane, ... Neurology 69 (5), 427-433, 2007 | 179 | 2007 |
| Widening spectrum of a reversible splenial lesion with transiently reduced diffusion J Takanashi, AJ Barkovich, T Shiihara, H Tada, M Kawatani, H Tsukahara, ... American journal of neuroradiology 27 (4), 836-838, 2006 | 170 | 2006 |
| Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, ... Human mutation 22 (5), 378-387, 2003 | 166 | 2003 |
| De novo KCNT1 mutations in early‐onset epileptic encephalopathy C Ohba, M Kato, N Takahashi, H Osaka, T Shiihara, J Tohyama, ... Epilepsia 56 (9), e121-e128, 2015 | 117 | 2015 |
| Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases T Shiihara, M Watanabe, A Honma, M Kato, Y Morita, T Ichiyama, ... Brain and Development 29 (10), 670-673, 2007 | 88 | 2007 |
| ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus M Shinohara, M Saitoh, D Nishizawa, K Ikeda, S Hirose, J Takanashi, ... Neurology 80 (17), 1571-1576, 2013 | 82 | 2013 |
| Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases M Shinohara, M Saitoh, J Takanashi, H Yamanouchi, M Kubota, T Goto, ... Brain and Development 33 (6), 512-517, 2011 | 81 | 2011 |
| Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor δ2 autoantibody T Shiihara, M Kato, A Konno, Y Takahashi, K Hayasaka Brain and Development 29 (4), 254-256, 2007 | 76 | 2007 |
| De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders T Akita, K Aoto, M Kato, M Shiina, H Mutoh, M Nakashima, I Kuki, ... Annals of clinical and translational neurology 5 (3), 280-296, 2018 | 73 | 2018 |
| Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency N Kurotaki, JJ Shen, M Touyama, T Kondoh, R Visser, T Ozaki, ... Genetics in Medicine 7 (7), 479-483, 2005 | 58 | 2005 |
| Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome N Miyake, N Kurotaki, H Sugawara, O Shimokawa, N Harada, T Kondoh, ... The American Journal of Human Genetics 72 (5), 1331-1337, 2003 | 57 | 2003 |
| 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 |
| Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS M Saitoh, K Kobayashi, I Ohmori, Y Tanaka, K Tanaka, T Inoue, A Horino, ... Journal of the neurological sciences 368, 272-276, 2016 | 56 | 2016 |
| Isolated sleep apnea due to Chiari type I malformation and syringomyelia T Shiihara, Y Shimizu, T Mitsui, E Saitoh, S Sato Pediatric neurology 13 (3), 266-267, 1995 | 46 | 1995 |
| Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination J Takanashi, T Shiihara, T Hasegawa, M Takayanagi, M Hara, A Okumura, ... Journal of the Neurological Sciences 349 (1-2), 226-228, 2015 | 44 | 2015 |
| Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling … S Narumi, C Numakura, T Shiihara, C Seiwa, Y Nozaki, T Yamagata, ... American Journal of Medical Genetics Part A 152 (1), 133-140, 2010 | 44 | 2010 |
| Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) H Tada, J Takanashi, H Okuno, M Kubota, T Yamagata, G Kawano, ... Journal of the neurological sciences 358 (1-2), 62-65, 2015 | 43 | 2015 |
| Peripheral lymphocyte subset and serum cytokine profiles of patients with West syndrome T Shiihara, M Miyashita, M Yoshizumi, M Watanabe, Y Yamada, M Kato Brain and Development 32 (9), 695-702, 2010 | 42 | 2010 |
Mitsuhiro KatoShowa UniversityVerified email at umin.ac.jp
