フォロー
Mitsuhiro Kato
Mitsuhiro Kato
Showa University
確認したメール アドレス: umin.ac.jp
タイトル
引用先
引用先
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
K Kitamura, M Yanazawa, N Sugiyama, H Miura, A Iizuka-Kogo, ...
Nature genetics 32 (3), 359-369, 2002
7892002
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
H Saitsu, M Kato, T Mizuguchi, K Hamada, H Osaka, J Tohyama, K Uruno, ...
Nature genetics 40 (6), 782-788, 2008
6162008
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Y Tsurusaki, N Okamoto, H Ohashi, T Kosho, Y Imai, Y Hibi-Ko, T Kaname, ...
Nature genetics 44 (4), 376-378, 2012
5492012
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
H Saitsu, T Nishimura, K Muramatsu, H Kodera, S Kumada, K Sugai, ...
Nature genetics 45 (4), 445-449, 2013
4752013
Lissencephaly and the molecular basis of neuronal migration
M Kato, WB Dobyns
Human molecular genetics 12 (suppl_1), R89-R96, 2003
3642003
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
M Kato, S Das, K Petras, K Kitamura, K Morohashi, DN Abuelo, M Barr, ...
Human mutation 23 (2), 147-159, 2004
3542004
Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy
J Takanashi, H Oba, AJ Barkovich, H Tada, Y Tanabe, H Yamanouchi, ...
Neurology 66 (9), 1304-1309, 2006
2632006
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
ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions
E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi, MR Sperling, ...
Epilepsia 63 (6), 1475-1499, 2022
2332022
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ...
Neurology 75 (1), 64-71, 2010
2262010
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
M Kato, S Saitoh, A Kamei, H Shiraishi, Y Ueda, M Akasaka, J Tohyama, ...
The American Journal of Human Genetics 81 (2), 361-366, 2007
2102007
MLL2 and KDM6A mutations in patients with Kabuki syndrome
N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ...
American journal of medical genetics Part A 161 (9), 2234-2243, 2013
2052013
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
M Nakashima, H Saitsu, N Takei, J Tohyama, M Kato, H Kitaura, M Shiina, ...
Annals of neurology 78 (3), 375-386, 2015
1982015
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
1792007
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term,“interneuronopathy”
M Kato, WB Dobyns
Journal of child neurology 19 (3), 392-397, 2004
1772004
Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
H Saitsu, J Tohyama, T Kumada, K Egawa, K Hamada, I Okada, ...
The American Journal of Human Genetics 86 (6), 881-891, 2010
1762010
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
Y Yoneda, K Haginoya, M Kato, H Osaka, K Yokochi, H Arai, A Kakita, ...
Annals of neurology 73 (1), 48-57, 2013
1742013
Early onset epileptic encephalopathy caused by de novo SCN8A mutations
C Ohba, M Kato, S Takahashi, T Lerman‐Sagie, D Lev, H Terashima, ...
Epilepsia 55 (7), 994-1000, 2014
1682014
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