Resultados de búsqueda - Renaud, Mathilde
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 por Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Publicado 2016Texto -
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Inadequate Immune Humoral Response against JC Virus in Progressive Multifocal Leukoencephalopathy Non-Survivors por Solis, Morgane, Guffroy, Aurélien, Lersy, François, Soulier, Eric, Gallais, Floriane, Renaud, Mathilde, Douiri, Nawal, Argemi, Xavier, Hansmann, Yves, De Sèze, Jérôme, Kremer, Stéphane, Fafi-Kremer, Samira
Publicado 2020Texto -
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation por Mallaret, Martial, Synofzik, Matthis, Lee, Jaeho, Sagum, Cari A., Mahajnah, Muhammad, Sharkia, Rajech, Drouot, Nathalie, Renaud, Mathilde, Klein, Fabrice A. C., Anheim, Mathieu, Tranchant, Christine, Mignot, Cyril, Mandel, Jean-Louis, Bedford, Mark, Bauer, Peter, Salih, Mustafa A., Schüle, Rebecca, Schöls, Ludger, Aldaz, C. Marcelo, Koenig, Michel
Publicado 2014Texto -
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias por Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D., Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A. Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A., Heinzmann, Anna, Horvath, Rita, de Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H., Santorelli, Filippo M., Schirinzi, Tommaso, Sival, Deborah A., Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, van de Warrenburg, Bart P., Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, Synofzik, Matthis
Publicado 2021Texto -
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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 por Renaud, Mathilde, Moreira, Maria-Céu, Ben Monga, Bondo, Rodriguez, Diana, Debs, Rabab, Charles, Perrine, Chaouch, Malika, Ferrat, Farida, Laurencin, Chloé, Vercueil, Laurent, Mallaret, Martial, M’Zahem, Abderrahim, Pacha, Lamia Ali, Tazir, Meriem, Tilikete, Caroline, Ollagnon, Elisabeth, Ochsner, François, Kuntzer, Thierry, Jung, Hans H., Beis, Jean-Marie, Netter, Jean-Claude, Djamshidian, Atbin, Bower, Mattew, Bottani, Armand, Walsh, Richard, Murphy, Sinead, Reiley, Thomas, Bieth, Éric, Roelens, Filip, Poll-The, Bwee Tien, Lourenço, Charles Marques, Jardim, Laura Bannach, Straussberg, Rachel, Landrieu, Pierre, Roze, Emmanuel, Thobois, Stéphane, Pouget, Jean, Guissart, Claire, Goizet, Cyril, Dürr, Alexandra, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Publicado 2018Texto -
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Implication of folate deficiency in CYP2U1 loss of function por Pujol, Claire, Legrand, Anne, Parodi, Livia, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario, Coarelli, Giulia, Croon, Marijana, Popovic, Milica, Valet, Manon, Villain, Nicolas, Elshafie, Shahira, Issa, Mahmoud, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cécilia, Legendre, Marine, Trimouille, Aurélien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G., Lamari, Foudil, Galatolo, Daniele, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H., Darios, Frédéric, Seyer, Alexandre, Gazi, Anastasia D., Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M., Goizet, Cyril, Zaki, Maha S., Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra, Stevanin, Giovanni
Publicado 2021Texto