Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

od Mouzat, Kevin, Chudinova, Aleksandra, Polge, Anne, Kantar, Jovana, Camu, William, Raoul, Cédric, Lumbroso, Serge
Wydane w Int J Mol Sci (2019)

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay

od Guissart, Claire, Mouzat, Kevin, Kantar, Jovana, Louveau, Baptiste, Vilquin, Paul, Polge, Anne, Raoul, Cédric, Lumbroso, Serge
Wydane w Sci Rep (2020)

Quantitative proteomic determination of diethylstilbestrol action on prostate cancer

od Bigot, Pierre, Mouzat, Kevin, Lebdai, Souhil, Bahut, Muriel, Benhabiles, Nora, Tassin, Géraldine Cancel, Azzouzi, Abdel-Rahmène, Cussenot, Olivier
Wydane 2013

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

od Bernard, Emilien, Pegat, Antoine, Svahn, Juliette, Bouhour, Françoise, Leblanc, Pascal, Millecamps, Stéphanie, Thobois, Stéphane, Guissart, Claire, Lumbroso, Serge, Mouzat, Kevin
Wydane w Int J Mol Sci (2020)

A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

od Mouzat, Kevin, Mercier, Eric, Polge, Anne, Evrard, Alexandre, Baron, Silvère, Balducchi, Jean-Pierre, Brouillet, Jean-Paul, Lumbroso, Serge, Gris, Jean-Christophe
Wydane 2011

Absence of Nuclear Receptors for Oxysterols Liver X Receptor Induces Ovarian Hyperstimulation Syndrome in Mice

od Mouzat, Kevin, Volat, Fanny, Baron, Silvère, Alves, Georges, Pommier, Aurélien J. C., Volle, David H., Marceau, Geoffroy, DeHaze, Angélique, Déchelotte, Pierre, Duggavathi, Raj, Caira, Françoise, Lobaccaro, Jean-Marc A.
Wydane 2009

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

od Esselin, Florence, Mouzat, Kevin, Polge, Anne, Juntas-Morales, Raul, Pageot, Nicolas, De la Cruz, Elisa, Bernard, Emilien, Lagrange, Emmeline, Danel, Véronique, Alphandery, Sébastien, Labar, Laura, Nogué, Erika, Picot, Marie-Christine, Lumbroso, Serge, Camu, William
Wydane w Front Neurosci (2020)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

od Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Wydane 2014

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

od Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
Wydane 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

od Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L., Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L., Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O., D’Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, de Araujo Martins Moreno, Cristiane, Kamalakaran, Sitharthan, Goldstein, David B., Gitler, Aaron D., Harris, Tim, Myers, Richard M., Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K., LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N., Thompson, Leslie M., Van Eyk, Jennifer E., Berry, James D., Miller, Timothy M., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Malaspina, Andrea, Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, Pulst, Stefan M., Ravits, John M., MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H., Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Rouleau, Guy A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Camu, William, Trojanowski, John Q., Van Deerlin, Vivianna M, Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E.
Wydane w Neuron (2018)