A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

por Feuillette, Sébastien, Charbonnier, Camille, Frebourg, Thierry, Campion, Dominique, Lecourtois, Magalie
Publicado 2020

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila

por Pons, Marine, Prieto, Silvia, Miguel, Laetitia, Frebourg, Thierry, Campion, Dominique, Suñé, Carles, Lecourtois, Magalie
Publicado 2018

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

por Coutant, Sophie, Cabot, Chloé, Lefebvre, Arnaud, Léonard, Martine, Prieur-Gaston, Elise, Campion, Dominique, Lecroq, Thierry, Dauchel, Hélène
Publicado 2012

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

por Persyn, Elodie, Karakachoff, Matilde, Le Scouarnec, Solena, Le Clézio, Camille, Campion, Dominique, Consortium, French Exome, Schott, Jean-Jacques, Redon, Richard, Bellanger, Lise, Dina, Christian
Publicado 2017

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

por 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
Publicado 2022

Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

por 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
Publicado 2022

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

por Rovelet-Lecrux, Anne, Feuillette, Sebastien, Miguel, Laetitia, Schramm, Catherine, Pernet, Ségolène, Quenez, Olivier, Ségalas-Milazzo, Isabelle, Guilhaudis, Laure, Rousseau, Stéphane, Riou, Gaëtan, Frébourg, Thierry, Campion, Dominique, Nicolas, Gaël, Lecourtois, Magalie
Publicado 2021

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

por Grangeon, Lou, Cassinari, Kévin, Rousseau, Stéphane, Croisile, Bernard, Formaglio, Maïté, Moreaud, Olivier, Boutonnat, Jean, Le Meur, Nathalie, Miné, Manuele, Coste, Thibault, Pipiras, Eva, Tournier-Lasserve, Elisabeth, Rovelet-Lecrux, Anne, Campion, Dominique, Wallon, David, Nicolas, Gael
Publicado 2021

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

por Dumanski, Jan P., Lambert, Jean-Charles, Rasi, Chiara, Giedraitis, Vilmantas, Davies, Hanna, Grenier-Boley, Benjamin, Lindgren, Cecilia M., Campion, Dominique, Dufouil, Carole, Pasquier, Florence, Amouyel, Philippe, Lannfelt, Lars, Ingelsson, Martin, Kilander, Lena, Lind, Lars, Forsberg, Lars A.
Publicado 2016

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

por Husson, Thomas, Duboc, Jean-Baptiste, Quenez, Olivier, Charbonnier, Camille, Rotharmel, Maud, Cuenca, Macarena, Jegouzo, Xavier, Richard, Anne-Claire, Frebourg, Thierry, Deleuze, Jean-François, Boland, Anne, Genin, Emmanuelle, Debette, Stéphanie, Tzourio, Christophe, Campion, Dominique, Nicolas, Gaël, Guillin, Olivier
Publicado 2018

Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

por Pierrot, Nathalie, Tyteca, Donatienne, D'auria, Ludovic, Dewachter, Ilse, Gailly, Philippe, Hendrickx, Aurélie, Tasiaux, Bernadette, Haylani, Laetitia El, Muls, Nathalie, N'Kuli, Francisca, Laquerrière, Annie, Demoulin, Jean-Baptiste, Campion, Dominique, Brion, Jean-Pierre, Courtoy, Pierre J, Kienlen-Campard, Pascal, Octave, Jean-Noël
Publicado 2013

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

por Guipponi, Michel, Santoni, Federico A., Setola, Vincent, Gehrig, Corinne, Rotharmel, Maud, Cuenca, Macarena, Guillin, Olivier, Dikeos, Dimitris, Georgantopoulos, Georgios, Papadimitriou, George, Curtis, Logos, Méary, Alexandre, Schürhoff, Franck, Jamain, Stéphane, Avramopoulos, Dimitri, Leboyer, Marion, Rujescu, Dan, Pulver, Ann, Campion, Dominique, Siderovski, David P., Antonarakis, Stylianos E.
Publicado 2014

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

por Guipponi, Michel, Santoni, Federico A., Setola, Vincent, Gehrig, Corinne, Rotharmel, Maud, Cuenca, Macarena, Guillin, Olivier, Dikeos, Dimitris, Georgantopoulos, Georgios, Papadimitriou, George, Curtis, Logos, Méary, Alexandre, Schürhoff, Franck, Jamain, Stéphane, Avramopoulos, Dimitri, Leboyer, Marion, Rujescu, Dan, Pulver, Ann, Campion, Dominique, Siderovski, David P., Antonarakis, Stylianos E.
Publicado 2015

A diagnostic scale for Alzheimer’s disease based on cerebrospinal fluid biomarker profiles

por Lehmann, Sylvain, Dumurgier, Julien, Schraen, Susanna, Wallon, David, Blanc, Frédéric, Magnin, Eloi, Bombois, Stéphanie, Bousiges, Olivier, Campion, Dominique, Cretin, Benjamin, Delaby, Constance, Hannequin, Didier, Jung, Barbara, Hugon, Jacques, Laplanche, Jean-Louis, Miguet-Alfonsi, Carole, Peoc’h, Katell, Philippi, Nathalie, Quillard-Muraine, Muriel, Sablonnière, Bernard, Touchon, Jacques, Vercruysse, Olivier, Paquet, Claire, Pasquier, Florence, Gabelle, Audrey
Publicado 2014

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

por Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J., Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S., Marguet, Florent, Laquerrière, Annie, Morris, Chris M., Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F., Veltman, Joris A., Hoischen, Alexander
Publicado 2018

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

por Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique
Publicado 2020

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

por Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Publicado 2016

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

por Nicolas, Gaël, Sévigny, Myriam, Lecoquierre, François, Marguet, Florent, Deschênes, Andréanne, del Pelaez, Maria Carment, Feuillette, Sébastien, Audebrand, Anaïs, Lecourtois, Magalie, Rousseau, Stéphane, Richard, Anne-Claire, Cassinari, Kévin, Deramecourt, Vincent, Duyckaerts, Charles, Boland, Anne, Deleuze, Jean-François, Meyer, Vincent, Clarimon Echavarria, Jordi, Gelpi, Ellen, Akiyama, Haruhiko, Hasegawa, Masato, Kawakami, Ito, Wong, Tsz H., Van Rooij, Jeroen G. J., Van Swieten, John C., Campion, Dominique, Dutchak, Paul A., Wallon, David, Lavoie-Cardinal, Flavie, Laquerrière, Annie, Rovelet-Lecrux, Anne, Sephton, Chantelle F.
Publicado 2022

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

por Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, de la Sayette, Vincent, Boutoleau-Bretonniere, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Félician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvée, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, Campion, Dominique
Publicado 2017