検索結果 - Renaud, Mathilde
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 著者: Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
出版事項 2016テキスト -
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Inadequate Immune Humoral Response against JC Virus in Progressive Multifocal Leukoencephalopathy Non-Survivors 著者: 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
出版事項 2020テキスト -
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation 著者: 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
出版事項 2014テキスト -
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias 著者: 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
出版事項 2021テキスト -
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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 著者: 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
出版事項 2018テキスト -
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Implication of folate deficiency in CYP2U1 loss of function 著者: 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
出版事項 2021テキスト