Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Stéphane Rousseau"'
Autor:
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, Florent Marguet, Andréanne Deschênes, Maria Carment del Pelaez, Sébastien Feuillette, Anaïs Audebrand, Magalie Lecourtois, Stéphane Rousseau, Anne-Claire Richard, Kévin Cassinari, Vincent Deramecourt, Charles Duyckaerts, Anne Boland, Jean-François Deleuze, Vincent Meyer, Jordi Clarimon Echavarria, Ellen Gelpi, Haruhiko Akiyama, Masato Hasegawa, Ito Kawakami, Tsz H. Wong, Jeroen G. J. Van Rooij, John C. Van Swieten, Dominique Campion, Paul A. Dutchak, David Wallon, Flavie Lavoie-Cardinal, Annie Laquerrière, Anne Rovelet-Lecrux, Chantelle F. Sephton
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-18 (2022)
Abstract Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotemporal lobar
Externí odkaz:
https://doaj.org/article/48e521d609984a38b72e92aa11f8c79b
Autor:
Anne Rovelet-Lecrux, Sebastien Feuillette, Laetitia Miguel, Catherine Schramm, Ségolène Pernet, Olivier Quenez, Isabelle Ségalas-Milazzo, Laure Guilhaudis, Stéphane Rousseau, Gaëtan Riou, Thierry Frébourg, Dominique Campion, Gaël Nicolas, Magalie Lecourtois
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-22 (2021)
Abstract The SorLA protein, encoded by the SORL1 gene, is a major player in Alzheimer’s disease (AD) pathophysiology. Functional and genetic studies demonstrated that SorLA deficiency results in increased production of Aβ peptides, and thus a high
Externí odkaz:
https://doaj.org/article/cd8485a3038f453c88b98b96329944db
Autor:
Laetitia Miguel, Anne Rovelet-Lecrux, Pascal Chambon, Géraldine Joly-Helas, Stéphane Rousseau, David Wallon, Stéphane Epelbaum, Thierry Frébourg, Dominique Campion, Gaël Nicolas, Magalie Lecourtois
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102762- (2022)
Tau proteins belong to the microtubule associated protein family and are mainly expressed in neurons. Tau accumulates in patients’ brain in several neurodegenerative diseases, including Fronto-temporal dementia and Alzheimer’s disease. Recently,
Externí odkaz:
https://doaj.org/article/6a35fe3e335e4703a9c35f61050102a0
Autor:
Kilan Le Guennec, Sarah Veugelen, Olivier Quenez, Maria Szaruga, Stéphane Rousseau, Gaël Nicolas, David Wallon, Frédérique Fluchere, Thierry Frébourg, Bart De Strooper, Dominique Campion, Lucía Chávez-Gutiérrez, Anne Rovelet-Lecrux
Publikováno v:
Neurobiology of Disease, Vol 104, Iss , Pp 97-103 (2017)
Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis.Using exome data from a large sa
Externí odkaz:
https://doaj.org/article/0095832c2dad44d8bac2152eb340a8a4
Autor:
Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon, Anne Rovelet-Lecrux, Morgane Lacour, Stéphane Rousseau, Anne-Claire Richard, Florence Pasquier, Adeline Rollin-Sillaire, Olivier Martinaud, Muriel Quillard-Muraine, Vincent de la Sayette, Claire Boutoleau-Bretonniere, Frédérique Etcharry-Bouyx, Valérie Chauviré, Marie Sarazin, Isabelle le Ber, Stéphane Epelbaum, Thérèse Jonveaux, Olivier Rouaud, Mathieu Ceccaldi, Olivier Félician, Olivier Godefroy, Maite Formaglio, Bernard Croisile, Sophie Auriacombe, Ludivine Chamard, Jean-Louis Vincent, Mathilde Sauvée, Cecilia Marelli-Tosi, Audrey Gabelle, Canan Ozsancak, Jérémie Pariente, Claire Paquet, Didier Hannequin, Dominique Campion, collaborators of the CNR-MAJ project
Publikováno v:
PLoS Medicine, Vol 14, Iss 3, p e1002270 (2017)
BackgroundAmyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification r
Externí odkaz:
https://doaj.org/article/9536e44b03ce4528b975b8c4718af8e5
Autor:
Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël, Collaborators Daniela Andriuta, Pierre, Anthony, Sophie, Auriacombe, Anna-Chloé, Balageas, Guillaume, Ballan, Mélanie, Barbay, Emilie, Beaufils, Yannick, Béjot, Serge, Belliard, Marie, Benaiteau, Karim, Bennys, Frédéric, Blanc, Stéphanie, Bombois, Claire Boutoleau Bretonnière, Pierre, Branger, Jasmine, Carlier, Leslie, Cartz-Piver, Pascaline, Cassagnaud, Giovanni, Castelnovo, Christine, Champion, Annabelle, Chaussenot, Mathieu, Ceccaldi, Valérie, Chauviré, Yaohua, Chen, Julien, Cogez, Emmanuel, Cognat, Fabienne, Contegal-Callier, Lea, Corneille, Philippe, Couratier, Hélène, Courtemanche, Benjamin, Cretin, Charlotte, Crinquette, Bernard, Croisille, Benjamin, Dauriat, Sophie, Dautricourt, Vincent de la Sayette, Astrid De Liège, Marie De Verdal, Didier, Deffond, Benoit, Delpont, Florence, Demurger, Vincent, Deramecourt, Céline, Derollez, Mira, Didic, Giulia, Diemert, Elsa, Dionet, Philippe, Diraison, Aude, Doan, Martine Doco Fenzy, Boris, Dufournet, Julien, Dumurgier, Hélène, Durand, Anas, Dutray, Frédérique, Etcharry-Bouyx, Maté, Formaglio, Audrey, Gabelle, Anne, Gainche-Salmon, Jean-Claude, Getenet, Emmanuelle, Ginglinger, Olivier, Godefroy, Mathilde, Graber, Chloé, Gregoire, Stephan, Grimaldi, Julien, Gueniat, Claude, Gueriot, Sophie, Haffen, Lorraine, Hamelin, Didier, Hannequin, Cezara, Hanta, Clémence, Hardy, Geoffroy, Hautecloque, Camille, Heitz, Claire, Hourregue, Thérèse, Jonveaux, Snejana, Jurici, Catia, Khoumri, Lejla, Koric, Pierre, Krolak-Salmon, Pierre, Labauge, Morgane, Lacour, Julien, Lagarde, Hélène-Marie, Lanoiselée, Brice, Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie, Leblanc, Thibaud, Lebouvier, Anas, Lippi, Marie-Anne, Mackowiak, Eloi, Magnin, Cecilia, Marelli, Olivier, Martinaud, Aurélien, Maureille, Emilie, Milongo-Rigal, Sophie, Mohr, Hélène, Mollion, Olivier, Moreaud, Alexandre, Morin, Gaël, Nicolas, Julia, Nivelle, Camille, Noiray, Elisabeth, Ollagnon-Roman, Claire, Paquet, Jérémie, Pariente, Florence, Pasquier, Alexandre, Perron, Nathalie, Philippi, Virginie, Pichon, Vincent, Planche, Céline, Poirsier, Marie, Rafiq, Pauline, Rod-Olivieri, Adeline, Rollin-Sillaire, Carole, Roué-Jagot, Dario, Saracino, Marie, Sarazin, Mathilde, Sauvée, François, Sellal, Lila Sirven Villaros, Christel, Thauvin, Camille, Tisserand, Christophe, Tomasino, Cédric, Turpinat, Laurène Van Damme, Olivier, Vercruysse, Alice, Voilly, Nathalie, Wagemann, David, Wallon, Aline, Zarea, Shahzad, Ahmad, Philippe, Amouyel, Claudine, Berr, Anne, Boland, Paola, Bossu, Femke, Bouwman, Jose, Bras, Dominique, Campion, Camille, Charbonnier, Jordi, Clarimon, Antonio, Daniele, Jean-François, Dartigues, Stéphanie, Debette, Jean-François, Deleuze, Nicola, Denning, Oriol, Dols-Icardo, Nick, C Fox, Daniela, Galimberti, Emmanuelle, Génin, Hans, Gille, Benjamin, Grenier-Boley, Detelina, Grozeva, Rita, Guerreiro, John, J Hardy, Clive, Holmes, Henne, Holstege, Marc, Hulsman, Holger, Hummerich, M Arfan Ikram, M Kamran Ikram, Iris, Jansen, Amit, Kawalia, Robert, Kraaij, Jean-Charles, Lambert, Marc, Lathrop, Afina, W Lemstra, Alberto, Lleo, Lauren, Luckcuck, Marcel M A, M Mannens, Rachel, Marshall, Carlo, Masullo, Simon, Mead, Mecocci, Patrizia, Alun, Meggy, Merel, O Mol, Kevin, Morgan, Benedetta, Nacmias, Penny, J Norsworthy, Pau, Pastor, Olivier, Quenez, Alfredo, Ramirez, Rachel, Raybould, Richard, Redon, Marcel J, T Reinders, Anne-Claire, Richard, Steffi, G Riedel-Heller, Fernando, Rivadeneira, Stéphane, Rousseau, Natalie, S Ryan, Salha, Saad, Pascual, Sanchez-Juan, Philip, Scheltens, Jonathan, M Schott, Davide, Seripa, Daoud, Sie, Rebecca, Sims, Erik, Sistermans, Sandro, Sorbi, Resie van Spaendonk, Gianfranco, Spalleta, Nicćolo, Tesi, Betty, Tijms, André, G Uitterlinden, Wiesje, M van der Flier, Sven, J van der Lee, Cornelia, M van Duijn, Jeroen G, J van Rooij, John, C van Swieten, Pieter, J de Visser, Michael, Wagner, Julie, Williams
Publikováno v:
Genome Medicine. 14
Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative
Autor:
Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool
Autor:
Sébastien Feuillette, Segalas-Milazzo I, Catherine Schramm, Dominique Campion, Anne Rovelet-Lecrux, Laetitia Miguel, Magalie Lecourtois, Pernet S, Gaëtan Riou, Gaël Nicolas, Thierry Frebourg, Stéphane Rousseau, Guilhaudis L
The SorLA protein, encoded by the SORL1 gene, is a major player in Alzheimer’s disease (AD) pathophysiology. Functional and genetic studies demonstrated that SorLA deficiency results in increased production of Aβ peptides, and thus a higher risk o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c87b4355bab7cd870b4b115e98c81a5
https://hal-normandie-univ.archives-ouvertes.fr/hal-03436834
https://hal-normandie-univ.archives-ouvertes.fr/hal-03436834
Autor:
Laetitia Miguel, Anne Rovelet-Lecrux, Pascal Chambon, Géraldine Joly-Helas, Stéphane Rousseau, David Wallon, Stéphane Epelbaum, Thierry Frébourg, Dominique Campion, Gaël Nicolas, Magalie Lecourtois
Publikováno v:
Stem cell research. 61
Tau proteins belong to the microtubule associated protein family and are mainly expressed in neurons. Tau accumulates in patients' brain in several neurodegenerative diseases, including Fronto-temporal dementia and Alzheimer's disease. Recently, we d
Autor:
Isabelle Le Ber, Marie Sarazin, Olivier Quenez, Florence Clavaguera, Catherine Schramm, Anne Rovelet-Lecrux, Camille Heitz, Mathieu Mula, Stéphane Epelbaum, Susana Boluda, Charles Duyckaerts, Manon Thierry, Didier Hannequin, Magalie Lecourtois, Serge Marty, Michel Bottlaender, Julien Lagarde, David Wallon, Natsuko Nakamura, François Sellal, Antoine Bonnevalle, Laetitia Miguel, Gaël Nicolas, Stéphane Rousseau, Dominique Campion, Thérèse Rivasseau Jonveaux, Aline Zarea, Eloi Magnin
Publikováno v:
Acta Neuropathologica
Acta Neuropathologica, 2021, 142 (2), pp.259-278. ⟨10.1007/s00401-021-02320-4⟩
Acta Neuropathologica, Springer Verlag, 2021, 142 (2), pp.259-278. ⟨10.1007/s00401-021-02320-4⟩
Acta Neuropathologica, 2021, 142 (2), pp.259-278. ⟨10.1007/s00401-021-02320-4⟩
Acta Neuropathologica, Springer Verlag, 2021, 142 (2), pp.259-278. ⟨10.1007/s00401-021-02320-4⟩
Microduplications of the 17q21.31 chromosomal region encompassing the MAPT gene, which encodes the Tau protein, were identified in patients with a progressive disorder initially characterized by severe memory impairment with or without behavioral cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340219b2edaf84125e02d6aad174bf45
https://normandie-univ.hal.science/hal-03357184
https://normandie-univ.hal.science/hal-03357184