Результати пошуку - Tesson, Christelle

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology за авторством Tesson, Christelle, Koht, Jeanette, Stevanin, Giovanni

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SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models за авторством Marinello, Martina, Werner, Andreas, Giannone, Mariagiovanna, Tahiri, Khadija, Alves, Sandro, Tesson, Christelle, den Dunnen, Wilfred, Seeler, Jacob-S., Brice, Alexis, Sittler, Annie

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Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism за авторством Lesage, Suzanne, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Benmahdjoub, Mustapha, Kesraoui, Selma, Arezki, Mohamed, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel за авторством Bouhouche, Ahmed, Tesson, Christelle, Regragui, Wafaa, Rahmani, Mounia, Drouet, Valérie, Tibar, Houyam, Souirti, Zouhayr, Ben El Haj, Rafiqua, Bouslam, Naima, Yahyaoui, Mohamed, Brice, Alexis, Benomar, Ali, Lesage, Suzanne

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Mutations in KCND3 cause spinocerebellar ataxia type 22 за авторством Lee, Yi-chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-hua, Liu, Yu-chao, Lien, Cheng-chang, Tsai, Pei-chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-tze, Tesson, Christelle, Lu, Yi-chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-wen

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

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Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson’s disease in the Caucasian population за авторством Giri, Anamika, Mok, Kin Y., Jansen, Iris, Sharma, Manu, Tesson, Christelle, Mangone, Graziella, Lesage, Suzanne, Bras, José M., Shulman, Joshua M., Sheerin, Una-Marie, Díez-Fairen, Mónica, Pastor, Pau, Martí, María José, Ezquerra, Mario, Tolosa, Eduardo, Correia-Guedes, Leonor, Ferreira, Joaquim, Amin, Najaf, van Duijn, Cornelia M., van Rooij, Jeroen, Uitterlinden, André G., Kraaij, Robert, Nalls, Michael, Simón-Sánchez, Javier

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Characterization of Recessive Parkinson Disease in a Large Multicenter Study за авторством Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 за авторством Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia за авторством Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

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