Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
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
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Journal Article
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
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
Published in Journal of medical genetics (01.10.2008)
Published in Journal of medical genetics (01.10.2008)
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Journal Article
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
Zanni, G, Saillour, Y, Nagara, M, Billuart, P, Castelnau, L, Moraine, C, Faivre, L, Bertini, E, Durr, A, Guichet, A, Rodriguez, D, des Portes, V, Beldjord, C, Chelly, J
Published in Neurology (08.11.2005)
Published in Neurology (08.11.2005)
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Journal Article
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 calcifications in basal ganglia
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
Published in Journal of medical genetics (01.11.2007)
Published in Journal of medical genetics (01.11.2007)
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Journal Article
Posterior fossa imaging in 158 children with ataxia
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
Published in Journal of neuroradiology (01.10.2010)
Published in Journal of neuroradiology (01.10.2010)
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Journal Article
Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing
Bahi-Buisson, N, Boddaert, N, Saillour, Y, Souville, I, Poirier, K, Léger, P-L, Castelnau, L, Plouin, P, Carion, N, Beldjord, C, Chelly, J
Published in Revue neurologique (01.12.2008)
Published in Revue neurologique (01.12.2008)
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Journal Article
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
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
Published in The Journal of clinical investigation (15.08.2024)
Published in The Journal of clinical investigation (15.08.2024)
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Journal Article
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
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
Published in Human molecular genetics (01.01.2016)
Published in Human molecular genetics (01.01.2016)
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Journal Article
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown
Saillour, Yoann, Broix, Loïc, Bruel-Jungerman, Elodie, Lebrun, Nicolas, Muraca, Giuseppe, Rucci, Julien, Poirier, Karine, Belvindrah, Richard, Francis, Fiona, Chelly, Jamel
Published in Human molecular genetics (15.03.2014)
Published in Human molecular genetics (15.03.2014)
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Journal Article
Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique
Bahi-Buisson, N., Boddaert, N., Saillour, Y., Souville, I., Poirier, K., Léger, P.-L., Castelnau, L., Plouin, P., Carion, N., Beldjord, C., Chelly, J.
Published in Revue neurologique (01.12.2008)
Published in Revue neurologique (01.12.2008)
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Journal Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice
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
Published in Human molecular genetics (01.05.2006)
Published in Human molecular genetics (01.05.2006)
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Journal Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4
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
Published in Brain (London, England : 1878) (01.01.2012)
Published in Brain (London, England : 1878) (01.01.2012)
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Journal Article
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes
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
Published in Molecular and cellular neuroscience (2005)
Published in Molecular and cellular neuroscience (2005)
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Journal Article
Identification du gène DYNC1H1 impliqué dans les malformations corticales grâce à l’étude de l’exome de 11 patients
Valence, S., Poirier, K., Saillour, Y., Lebrun, N., Chelly, J., Bahi Buisson, N.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
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Journal Article
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
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
Published in Brain research. Molecular brain research. (17.03.2004)
Published in Brain research. Molecular brain research. (17.03.2004)
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Journal Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice
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
Published in Human molecular genetics (01.07.2006)
Published in Human molecular genetics (01.07.2006)
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Journal Article
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 calcifications in basal ganglia
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
Published in Journal of medical genetics (01.11.2007)
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Published in Journal of medical genetics (01.11.2007)
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