檢索結果 - Marcel Tawk
- Showing 1 - 7 results of 7
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Immunophilin FKBP52 induces Tau-P301L filamentous assembly in vitro and modulates its activity in a model of tauopathy 由 Julien Giustiniani, Béatrice Chambraud, Elodie Sardin, Omar Dounane, Kevin Guillemeau, Hiroko Nakatani, Dominik Paquet, Amina Kamah, Isabelle Landrieu, Guy Lippens, Étienne-Émile Baulieu, Marcel Tawk
出版 2014Artigo -
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Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation 由 Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loïc Quevarec, Hélène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Marta Gut, Jéléna Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
出版 2018Artigo -
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Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 由 Jianping Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu‐Abadie, Marta Gut, Thierry Levade, Haluk Topaloğlu, Judith Melki
出版 2012Artigo -
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Local Tissue Interactions across the Dorsal Midline of the Forebrain Establish CNS Laterality 由 Miguel L. Concha, Claire Russell, Jennifer C. Regan, Marcel Tawk, Samuel Sidi, Darren Gilmour, Marika Kapsimali, Lauro Sumoy, Kim Goldstone, Enrique Amaya, David Kimelman, Teresa Nicolson, Stefan Gründer, Miranda Gomperts, Jonathan D. W. Clarke, Stephen W. Wilson
出版 2003Artigo -
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects 由 Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki
出版 2013Artigo -
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 由 Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki
出版 2021Artigo
相關主題
Biology
Gene
Genetics
Cell biology
Central nervous system
Exome sequencing
Medicine
Mutation
Neuroscience
Anatomy
Arthrogryposis
Arthrogryposis multiplex congenita
Myelin
Phenotype
Zebrafish
Alzheimer's disease
Axolemma
Beta-catenin
Biochemistry
Bioinformatics
Candidate gene
Combinatorics
Compound heterozygosity
DNA sequencing
Disease
Disease gene identification
Dorsum
Enhancer
Exome
Forebrain