Rezultati - Tesson, Christelle

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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