Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

por Lopez, Régis, Rivier, François, Chelly, Jamel, Dauvilliers, Yves
Publicado 2019

Synaptic Maturation at Cortical Projections to the Lateral Amygdala in a Mouse Model of Rett Syndrome

por Gambino, Frédéric, Khelfaoui, Malik, Poulain, Bernard, Bienvenu, Thierry, Chelly, Jamel, Humeau, Yann
Publicado 2010

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

por Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia
Publicado 2017

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 2016

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

por Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth
Publicado 2012

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

por Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu
Publicado 2022

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up

por Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K.
Publicado 2009

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

por Khelfaoui, Malik, Pavlowsky, Alice, Powell, Andrew D., Valnegri, Pamela, Cheong, Kenneth W., Blandin, Yann, Passafaro, Maria, Jefferys, John G.R., Chelly, Jamel, Billuart, Pierre
Publicado 2009

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Publicado 2010

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Publicado 2010

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

por Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.
Publicado 2018

Epilepsy in Dcx Knockout Mice Associated with Discrete Lamination Defects and Enhanced Excitability in the Hippocampus

por Nosten-Bertrand, Marika, Kappeler, Caroline, Dinocourt, Céline, Denis, Cécile, Germain, Johanne, Dinh Tuy, Françoise Phan, Verstraeten, Soraya, Alvarez, Chantal, Métin, Christine, Chelly, Jamel, Giros, Bruno, Miles, Richard, Depaulis, Antoine, Francis, Fiona
Publicado 2008

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

por Meziane, Hamid, Birling, Marie-Christine, Wendling, Olivia, Leblanc, Sophie, Dubos, Aline, Selloum, Mohammed, Pavlovic, Guillaume, Sorg, Tania, Kalscheuer, Vera M., Billuart, Pierre, Laumonnier, Frédéric, Chelly, Jamel, van Bokhoven, Hans, Herault, Yann
Publicado 2022

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

por Massouridès, Emmanuelle, Polentes, Jérôme, Mangeot, Philippe-Emmanuel, Mournetas, Virginie, Nectoux, Juliette, Deburgrave, Nathalie, Nusbaum, Patrick, Leturcq, France, Popplewell, Linda, Dickson, George, Wein, Nicolas, Flanigan, Kevin M., Peschanski, Marc, Chelly, Jamel, Pinset, Christian
Publicado 2015

Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions

por Daoud, Fatma, Candelario-Martínez, Aurora, Billard, Jean-Marie, Avital, Avi, Khelfaoui, Malik, Rozenvald, Yael, Guegan, Maryvonne, Mornet, Dominique, Jaillard, Danielle, Nudel, Uri, Chelly, Jamel, Martínez-Rojas, Dalila, Laroche, Serge, Yaffe, David, Vaillend, Cyrille
Publicado 2009

Correction: Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions

por Daoud, Fatma, Candelario-Martínez, Aurora, Billard, Jean-Marie, Avital, Avi, Khelfaoui, Malik, Rozenvald, Yael, Guegan, Maryvonne, Mornet, Dominique, Jaillard, Danielle, Nudel, Uri, Chelly, Jamel, Martínez-Rojas, Dalila, Laroche, Serge, Yaffe, David, Vaillend, Cyrille
Publicado 2010

A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations

por Dubos, Aline, Meziane, Hamid, Iacono, Giovanni, Curie, Aurore, Riet, Fabrice, Martin, Christelle, Loaëc, Nadège, Birling, Marie-Christine, Selloum, Mohammed, Normand, Elisabeth, Pavlovic, Guillaume, Sorg, Tania, Stunnenberg, Henk G, Chelly, Jamel, Humeau, Yann, Friocourt, Gaëlle, Hérault, Yann
Publicado 2018

Next generation sequencing for molecular diagnosis of neuromuscular diseases

por Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn
Publicado 2012

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

por Romero, Delfina M., Poirier, Karine, Belvindrah, Richard, Moutkine, Imane, Houllier, Anne, LeMoing, Anne-Gaëlle, Petit, Florence, Boland, Anne, Collins, Stephan C., Soiza-Reilly, Mariano, Yalcin, Binnaz, Chelly, Jamel, Deleuze, Jean-François, Bahi-Buisson, Nadia, Francis, Fiona
Publicado 2022

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

por Vasson, Aurélie, Leroux, Céline, Orhant, Lucie, Boimard, Mathieu, Toussaint, Aurélie, Leroy, Chrystel, Commere, Virginie, Ghiotti, Tiffany, Deburgrave, Nathalie, Saillour, Yoann, Atlan, Isabelle, Fouveaut, Corinne, Beldjord, Cherif, Valleix, Sophie, Leturcq, France, Dodé, Catherine, Bienvenu, Thierry, Chelly, Jamel, Cossée, Mireille
Publicado 2013