Canlyniadau Chwilio - Chelly, Jamel

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder gan Lopez, Régis, Rivier, François, Chelly, Jamel, Dauvilliers, Yves

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Synaptic Maturation at Cortical Projections to the Lateral Amygdala in a Mouse Model of Rett Syndrome gan Gambino, Frédéric, Khelfaoui, Malik, Poulain, Bernard, Bienvenu, Thierry, Chelly, Jamel, Humeau, Yann

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Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions gan Pavlowsky, Alice, Zanchi, Alice, Pallotto, Marta, Giustetto, Maurizio, Chelly, Jamel, Sala, Carlo, Billuart, Pierre

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A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB gan Tian, Guoling, Kong, Xiang-Peng, Jaglin, Xavier H., Chelly, Jamel, Keays, David, Cowan, Nicholas J.

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway gan Tian, Guoling, Jaglin, Xavier H., Keays, David A., Francis, Fiona, Chelly, Jamel, Cowan, Nicholas J.

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Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome gan Fichou, Yann, Bahi-Buisson, Nadia, Nectoux, Juliette, Chelly, Jamel, Héron, Delphine, Cuisset, Laurence, Bienvenu, Thierry

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome gan Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations gan Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia

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Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation gan Powell, Andrew D, Gill, Kalbinder K, Saintot, Pierre-Philippe, Jiruska, Premysl, Chelly, Jamel, Billuart, Pierre, Jefferys, John G R

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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 gan Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine

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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database gan Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth

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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia gan Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu

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Distinct roles of doublecortin modulating the microtubule cytoskeleton gan Moores, Carolyn A, Perderiset, Mylène, Kappeler, Caroline, Kain, Susan, Drummond, Douglas, Perkins, Stephen J, Chelly, Jamel, Cross, Rob, Houdusse, Anne, Francis, Fiona

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Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up gan Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K.

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Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis gan Friocourt, Gaëlle, Kanatani, Shigeaki, Tabata, Hidenori, Yozu, Masato, Takahashi, Takao, Antypa, Mary, Raguénès, Odile, Chelly, Jamel, Férec, Claude, Nakajima, Kazunori, Parnavelas, John G.

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Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation gan Khelfaoui, Malik, Pavlowsky, Alice, Powell, Andrew D., Valnegri, Pamela, Cheong, Kenneth W., Blandin, Yann, Passafaro, Maria, Jefferys, John G.R., Chelly, Jamel, Billuart, Pierre

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Liver insulin-like growth factor 2 methylation in hepatitis C virus cirrhosis and further occurrence of hepatocellular carcinoma gan Couvert, Philippe, Carrié, Alain, Pariès, Jacques, Vaysse, Jenny, Miroglio, Audrey, Kerjean, Antoine, Nahon, Pierre, Chelly, Jamel, Trinchet, Jean-Claude, Beaugrand, Michel, Ganne-Carrié, Nathalie

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Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder gan Houbaert, Xander, Zhang, Chun-Lei, Gambino, Frédéric, Lepleux, Marilyn, Deshors, Melissa, Normand, Elisabeth, Levet, Florian, Ramos, Mariana, Billuart, Pierre, Chelly, Jamel, Herzog, Etienne, Humeau, Yann

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Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas gan Coste, Alix de La, Romagnolo, Béatrice, Billuart, Pierre, Renard, Claire-Angélique, Buendia, Marie-Annick, Soubrane, Olivier, Fabre, Monique, Chelly, Jamel, Beldjord, Cherif, Kahn, Axel, Perret, Christine

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Mutation of plasma membrane Ca(2+) ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca(2+) homeostasis gan Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M., Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto

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