Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression von Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel

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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations von Bahi-Buisson, N, Poirier, K, Boddaert, N, Saillour, Y, Castelnau, L, Philip, N, Buyse, G, Villard, L, Joriot, S, Marret, S, Bourgeois, M, Van Esch, H, Lagae, L, Amiel, J, Hertz-Pannier, L, Roubertie, A, Rivier, F, Pinard, J M, Beldjord, C, Chelly, J

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia von ZANNI, G, SAILLOUR, Y, RODRIGUEZ, D, DES PORTES, V, BELDJORD, C, CHELLY, J, NAGARA, M, BILLUART, P, CASTELNAU, L, MORAINE, C, FAIVRE, L, BERTINI, E, DURR, A, GUICHET, A

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... von Saillour, Y, Zanni, G, Des Portes, V, Heron, D, Guibaud, L, Iba-Zizen, M T, Pedespan, J L, Poirier, K, Castelnau, L, Julien, C, Franconnet, C, Bonthron, D, Porteous, M E, Chelly, J, Bienvenu, T

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Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique von Bahi-Buisson, N., Boddaert, N., Saillour, Y., Souville, I., Poirier, K., Léger, P.-L., Castelnau, L., Plouin, P., Carion, N., Beldjord, C., Chelly, J.

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Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes von Delépine, Chloé, Meziane, Hamid, Nectoux, Juliette, Opitz, Matthieu, Smith, Amos B, Ballatore, Carlo, Saillour, Yoann, Bennaceur-Griscelli, Annelise, Chang, Qiang, Williams, Emily Cunningham, Dahan, Maxime, Duboin, Aurélien, Billuart, Pierre, Herault, Yann, Bienvenu, Thierry

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De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism von Riva, Martina, Ferreira, Sofia, Hayashi, Kotaro, Saillour, Yoann, Medvedeva, Vera P, Honda, Takao, Hayashi, Kanehiro, Altersitz, Claire, Albadri, Shahad, Rosello, Marion, Dang, Julie, Serafini, Malo, Causeret, Frédéric, Henry, Olivia J, Roux, Charles-Joris, Bellesme, Céline, Freri, Elena, Josifova, Dragana, Parrini, Elena, Guerrini, Renzo, Del Bene, Filippo, Nakajima, Kazunori, Bahi-Buisson, Nadia, Pierani, Alessandra

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Posterior fossa imaging in 158 children with ataxia von Boddaert, N, Desguerre, I, Bahi-Buisson, N, Romano, S, Valayannopoulos, V, Saillour, Y, Seidenwurm, D, Grevent, D, Berteloot, L, Lebre, A.-S, Zilbovicius, M, Puget, S, Salomon, R, Attie-Bitach, T, Munnich, A, Brunelle, F, de Lonlay, P

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Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown von Saillour, Yoann, Broix, Loïc, Bruel-Jungerman, Elodie, Lebrun, Nicolas, Muraca, Giuseppe, Rucci, Julien, Poirier, Karine, Belvindrah, Richard, Francis, Fiona, Chelly, Jamel

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Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice von Kappeler, Caroline, Saillour, Yoann, Baudoin, Jean-Pierre, Tuy, Françoise Phan Dinh, Alvarez, Chantal, Houbron, Christophe, Gaspar, Patricia, Hamard, Ghislaine, Chelly, Jamel, Métin, Christine, Francis, Fiona

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Identification du gène DYNC1H1 impliqué dans les malformations corticales grâce à l’étude de l’exome de 11 patients von Valence, S., Poirier, K., Saillour, Y., Lebrun, N., Chelly, J., Bahi Buisson, N.

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Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing von Bahi-Buisson, N, Boddaert, N, Saillour, Y, Souville, I, Poirier, K, Léger, P-L, Castelnau, L, Plouin, P, Carion, N, Beldjord, C, Chelly, J

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Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4 von Valayannopoulos, Vassili, Michot, Caroline, Rodriguez, Diana, Hubert, Laurence, Saillour, Yoann, Labrune, Philippe, de Laveaucoupet, Jocelyne, Brunelle, Francis, Amiel, Jeanne, Lyonnet, Stanislas, Enza-Razavi, Ferechté, Attié-Bitach, Tania, Lacombe, Didier, Bahi-Buisson, Nadia, Desguerre, Isabelle, Chelly, Jamel, Burglen, Lydie, Boddaert, Nathalie, de Lonlay, Pascale

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Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes von Friocourt, Gaëlle, Kappeler, Caroline, Saillour, Yoann, Fauchereau, Fabien, Rodriguez, Manuel S., Bahi, Nadia, Vinet, Marie-Claude, Chafey, Philippe, Poirier, Karine, Taya, Shinichiro, Wood, Stephen A., Dargemont, Catherine, Francis, Fiona, Chelly, Jamel

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Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons von Poirier, Karine, Van Esch, Hilde, Friocourt, Gaëlle, Saillour, Yoann, Bahi, Nadia, Backer, Stéphanie, Souil, Evelyne, Castelnau-Ptakhine, Laetitia, Beldjord, Cherif, Francis, Fiona, Bienvenu, Thierry, Chelly, Jamel

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Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice von Kappeler, Caroline, Saillour, Yoann, Baudoin, Jean-Pierre, Phan Dinh Tuy, Françoise, Alvarez, Chantal, Houbron, Christophe, Gaspar, Patricia, Hamard, Ghislaine, Chelly, Jamel, Métin, Christine, Francis, Fiona

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Supplementary Material for: Alternative Transcripts of Dclk1 and Dclk2 and Their Expression in Doublecortin Knockout Mice von Kappeler, C., Chelly, J., Francis, F., Phan Dinh Tuy, F., Saillour, Y.

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International variation in managing locally advanced or recurrent rectal cancer: prospective benchmark analysis von Denost, Q., Solomon, M., Tuech, J.‐J., Ghouti, L., Cotte, E., Panis, Y., Lelong, B., Rouanet, P., Faucheron, J.‐L., Jafari, M., Lefevre, J. H., Rullier, E., Heriot, A., Austin, K., Lee, P., Brown, W., Maillou‐Martinaud, H., Savel, H., Quintard, B., Broc, G., Saillour‐Glénisson, F.

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... von Saillour, Y, Zanni, G, Des Portes, V, Heron, D, Guibaud, L, Iba-Zizen, M T, Pedespan, J L, Poirier, K, Castelnau, L, Julien, C, Franconnet, C, Bonthron, D, Porteous, M E, Chelly, J, Bienvenu, T

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Refining the phenotype associated with biallelic DNAJC21 mutations von D'Amours, G., Lopes, Fátima Daniela Teixeira, Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V-A, Pastore, Y. D., Soucy, J-F

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