CpG content affects gene silencing in mice: evidence from novel transgenes

por Chevalier-Mariette, Christine, Henry, Isabelle, Montfort, Lucile, Capgras, Suzanne, Forlani, Sylvie, Muschler, John, Nicolas, Jean-François
Publicado 2003

Survival and severity in dominant cerebellar ataxias

por Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra
Publicado 2015

Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer’s disease patients are associated with cognitive impairment

por Xicota, Laura, Lagarde, Julien, Eysert, Fanny, Grenier-Boley, Benjamin, Rivals, Isabelle, Botté, Alexandra, Forlani, Sylvie, Landron, Sophie, Gautier, Clément, Gabriel, Cecilia, Bottlaender, Michel, Lambert, Jean-Charles, Chami, Mounia, Sarazin, Marie, Potier, Marie-Claude
Publicado 2023

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

por Gonsior, Kathrin, Kaucher, Gabriele Anna, Pelz, Patrik, Schumann, Dorothea, Gansel, Melanie, Kuhs, Sandra, Klockgether, Thomas, Forlani, Sylvie, Durr, Alexandra, Hauser, Stefan, Rattay, Tim W., Synofzik, Matthis, Hengel, Holger, Schöls, Ludger, Rieß, Olaf H., Hübener-Schmid, Jeannette
Publicado 2020

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

por Kmetzsch, Virgilio, Anquetil, Vincent, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnès, Gareau, Thomas, Jornea, Ludmila, Forlani, Sylvie, Couratier, Philippe, Wallon, David, Pasquier, Florence, Robil, Noémie, de la Grange, Pierre, Moszer, Ivan, Le Ber, Isabelle, Colliot, Olivier, Becker, Emmanuelle
Publicado 2021

Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

por Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, Hartmann, Andreas
Publicado 2023

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

por Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, Hartmann, Andreas
Publicado 2019

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

por Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo
Publicado 2013

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

por Lesage, Suzanne, Houot, Marion, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Forlani, Sylvie, Anheim, Mathieu, Brefel-Courbon, Christine, Broussolle, Emmanuel, Thobois, Stéphane, Damier, Philippe, Durif, Franck, Roze, Emmanuel, Tison, François, Grabli, David, Ory-Magne, Fabienne, Degos, Bertrand, Viallet, François, Cormier-Dequaire, Florence, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis
Publicado 2020

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications

por Saracino, Dario, Dorgham, Karim, Camuzat, Agnès, Rinaldi, Daisy, Rametti-Lacroux, Armelle, Houot, Marion, Clot, Fabienne, Martin-Hardy, Philippe, Jornea, Ludmila, Azuar, Carole, Migliaccio, Raffaella, Pasquier, Florence, Couratier, Philippe, Auriacombe, Sophie, Sauvée, Mathilde, Boutoleau-Bretonnière, Claire, Pariente, Jérémie, Didic, Mira, Hannequin, Didier, Wallon, David, Colliot, Olivier, Dubois, Bruno, Brice, Alexis, Levy, Richard, Forlani, Sylvie, Le Ber, Isabelle
Publicado 2021

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

por Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Publicado 2014

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

por Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Publicado 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

por Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef
Publicado 2019