檢索結果 - Pierre Cau
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Molecular bases of progeroid syndromes 由 Claire Navarro, Pierre Cau, Nicolas Lévy
出版 2006Revisão -
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Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas 由 Barbara Royer, Dinesh C. Soares, Paul N. Barlow, Ronald E. Bontrop, Patrice Roll, Andrée Robaglia‐Schlupp, Antoine Blancher, Anthony Levasseur, Pierre Cau, Pierre Pontarotti, Pierre Szepetowski
出版 2007Artigo -
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Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR 由 Barbara Royer-Zemmour, Magali Ponsole-Lenfant, Hyam Gara, Patrice Roll, Christian Lévêque, Annick Massacrier, Géraldine Ferracci, Jennifer Cillario, Andrée Robaglia‐Schlupp, Renaud Vincentelli, Pierre Cau, Pierre Szepetowski
出版 2008Artigo -
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High prevalence of laminopathies among patients with metabolic syndrome 由 Anne Dutour, Patrice Roll, Bénédicte Gaborit, Sébastien Courrier, Marie‐Christine Alessi, David‐Alexandre Trégouët, Fabien Angelis, Andrée Robaglia‐Schlupp, Nathalie Lesavre, Pierre Cau, Nicolas Lévy, Catherine Badens, Pierre‐Emmanuel Morange
出版 2011Artigo -
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A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy 由 Martin Krahn, Nicolas Wein, Marc Bartoli, William Lostal, Sébastien Courrier, Nathalie Bourg-Alibert, Karine Nguyen, Christophe Vial, Nathalie Streichenberger, Véronique Labelle, D. Depétris, Christophe Pécheux, France Leturcq, Pierre Cau, Isabelle Richard, Nicolas Lévy
出版 2010Artigo -
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus 由 Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean‐Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delépine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug‐Tanguy, Laurent Villard
出版 2013Artigo -
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Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex 由 Sarah Jamali, Fabrice Bartoloméi, Andrée Robaglia‐Schlupp, Annick Massacrier, J.C. Peragut, Jean Régis, H. Dufour, Rivka Ravid, Patrice Roll, Sandrine Pereira, Barbara Royer, Nathalie Roëckel-Trevisiol, Marc Fontaine, Maxime Guye, José Boucraut, Patrick Chauvel, Pierre Cau, Pierre Szepetowski
出版 2006Artigo -
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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors 由 Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, José M.P. Freije, Pierre Cau, Raoul C. M. Hennekam, Carlos López-Otı́n, Catherine Badens, Nicolas Lévy
出版 2005Artigo -
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 由 Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy
出版 2004Artigo
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Biology
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Gene
Lamin
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Progeria
LMNA
Pathology
Transcription factor
Cancer research
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Nuclear lamina
Nuclear protein
Premature aging
Arthrogryposis
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Exon
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Cell nucleus