検索結果 - Saeko Ishida
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies 著者: Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Édouard Hirsch, Eric LeGuern, Stéphanie Baulac
出版事項 2013Artigo -
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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures 著者: Morgane Boillot, Clément Huneau, Elise Marsan, Katia Lehongre, Vincent Navarro, Saeko Ishida, Béatrice Dufresnois, Ekim Özkaynak, J.L. Garrigue, Richard Miles, Benoı̂t Martin, Eric LeGuern, Matthew P. Anderson, Stéphanie Baulac
出版事項 2014Artigo -
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Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations 著者: Stéphanie Baulac, Saeko Ishida, Elise Marsan, Catherine Miquel, Arnaud Biraben, Dang Khoa Nguyen, Doug Nordli, Patrick Cossette, Sylvie Nguyen, Virginie Lambrecq, Mihaela Bustuchina ̆ Vlaicu, Maïlys Daniau, Franck Bielle, Eva Andermann, Frédérick Andermann, Eric Leguern, Francine Chassoux, Fabienne Picard
出版事項 2015Artigo -
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Generation and Characterization of Severe Combined Immunodeficiency Rats 著者: Tomoji Mashimo, Akiko Takizawa, Junya Kobayashi, Yayoi Kunihiro, Kazuto Yoshimi, Saeko Ishida, Koji Tanabe, Ami Yanagi, Asato Tachibana, Jun Hirose, Jun‐ichiro Yomoda, Shiho Morimoto, Takashi Kuramoto, Birger Voigt, Takeshi Watanabe, Hiroshi Hiai, Chise Tateno, Kenshi Komatsu, Tadao Serikawa
出版事項 2012Artigo -
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Depdc5 knockout rat: A novel model of mTORopathy 著者: Elise Marsan, Saeko Ishida, Adrien E. Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, Caroline Treins, Mario Pende, Delphine Roussel, Michel Le Van Quyen, Tomoji Mashimo, Takehito Kaneko, Takashi Yamamoto, Tetsushi Sakuma, Séverine Mahon, Richard Miles, Eric LeGuern, Stéphane Charpier, Stéphanie Baulac
出版事項 2016Artigo -
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<i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy 著者: Fabienne Picard, Periklis Makrythanasis, Vincent Navarro, Saeko Ishida, Julitta de Bellescize, Dorothée Ville, Sarah Weckhuysen, Erwin Fosselle, Arvid Suls, Peter De Jonghe, Maryline Vasselon Raina, Gaëtan Lesca, Christel Depienne, Isabelle An-Gourfinkel, Mihaela Bustuchina ̆ Vlaicu, Michel Baulac, Emeline Mundwiller, Philippe Couarch, Romina Combi, Luigi Ferini‐Strambi, Antonio Gambardella, Stylianos E. Antonarakis, Eric LeGuern, Ortrud K. Steinlein, Stéphanie Baulac
出版事項 2014Artigo
関連主題
Biology
Genetics
Neuroscience
Epilepsy
Gene
Medicine
Mutation
Cancer research
Cell biology
Frameshift mutation
Gene knockdown
Internal medicine
Phenotype
Signal transduction
Cortical dysplasia
Dishevelled
Downregulation and upregulation
Embryonic stem cell
Epilepsy syndromes
Exome
Exome sequencing
Frizzled
Frontal lobe
GABAergic
Genetic enhancement
Genetic model
Glutamate receptor
Glutamatergic
Haematopoiesis
Haploinsufficiency