检索结果 - Antonio Falace
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Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy 由 Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, B. Chabrol, Laurent Villard, Anna Fassio
出版 2013Artigo -
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TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway 由 Antonio Falace, Emmanuelle Buhler, Manuela Fadda, Françoise Watrin, Pellegrino Lippiello, Emilie Pallesi‐Pocachard, Pietro Baldelli, Fabio Benfenati, Federico Zara, Alfonso Represa, Anna Fassio, Carlos Cardoso
出版 2014Artigo -
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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy 由 Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, De Falco Fa, Pasquale Striano, F. Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara
出版 2010Artigo -
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 由 Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedı̀, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L. Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia B. Wortmann, Erez Y. Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini
出版 2019Artigo -
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability 由 Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron
出版 2015Artigo -
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<i>TBC1D24</i> genotype–phenotype correlation 由 Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya
出版 2016Artigo
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