The wide spectrum of tubulinopathies: what are the key features for the diagnosis? von BAHI-BUISSON, Nadia, POIRIER, Karine, LASCELLES, Karine, SOUVILLE, Isabelle, BELDJORD, Cherif, CHELLY, Jamel, FOURNIOL, Franck, SAILLOUR, Yoann, VALENCE, Stéphanie, LEBRUN, Nicolas, HULLY, Marie, BIANCO, Catherine Fallet, BODDAERT, Nathalie, ELIE, Caroline

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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia von Broix, Loïc, Jagline, Hélène, L Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T, Metcalfe, Kay A, Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C, Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel

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Genetics and pathophysiology of mental retardation von Chelly, Jamel, Khelfaoui, Malik, Francis, Fiona, Chérif, Beldjord, Bienvenu, Thierry

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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) von Poirier, Karine, Keays, David A, Francis, Fiona, Saillour, Yoann, Bahi, Nadia, Manouvrier, Sylvie, Fallet-Bianco, Catherine, Pasquier, Laurent, Toutain, Annick, Tuy, Françoise Phan Dinh, Bienvenu, Thierry, Joriot, Sylvie, Odent, Sylvie, Ville, Dorothée, Desguerre, Isabelle, Goldenberg, Alice, Moutard, Marie-Laure, Fryns, Jean-Pierre, van Esch, Hilde, Harvey, Robert J, Siebold, Christian, Flint, Jonathan, Beldjord, Chérif, Chelly, Jamel

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex von Bahi-Buisson, Nadia, Poirier, Karine, Boddaert, Nathalie, Fallet-Bianco, Catherine, Specchio, Nicola, Bertini, Enrico, Caglayan, Okay, Lascelles, Karine, Elie, Caroline, Rambaud, Jérôme, Baulac, Michel, An, Isabelle, Dias, Patricia, des Portes, Vincent, Moutard, Marie Laure, Soufflet, Christine, El Maleh, Monique, Beldjord, Cherif, Villard, Laurent, Chelly, Jamel

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria von Poirier, Karine, Saillour, Yoann, Fourniol, Franck, Francis, Fiona, Souville, Isabelle, Valence, Stéphanie, Desguerre, Isabelle, Marie Lepage, Jean, Boddaert, Nathalie, Line Jacquemont, Marine, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

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Human disorders of cortical development: from past to present von Francis, Fiona, Meyer, Gundela, Fallet-Bianco, Catherine, Moreno, Sarah, Kappeler, Caroline, Socorro, Alfredo Cabrera, Tuy, Françoise Phan Dinh, Beldjord, Cherif, Chelly, Jamel

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Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas von De La Coste, Alix, Romagnolo, Beatrice, Billuart, Pierre, Renard, Claire-Angelique, Buendia, Marie-Annick, Soubrane, Olivier, Fabre, Monique, Chelly, Jamel, Beldjord, Cherif, Kahn, Axel, Perret, Christine

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Bilateral Frontoparietal Polymicrogyria von Jain, Puneet, Sharma, Suvasini, Bahi-Buisson, Nadia, Beldjord, Chérif, Aneja, Satinder

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome von Portes, Vincent des, Pinard, Jean Marc, Billuart, Pierre, Vinet, Marie Claude, Koulakoff, Annette, Carrié, Alain, Gelot, Antoinette, Dupuis, Elisabeth, Motte, Jacques, Berwald-Netter, Yoheved, Catala, Martin, Kahn, Axel, Beldjord, Cherif, Chelly, Jamel

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency von Bouilly, Justine, Beau, Isabelle, Barraud, Sara, Bernard, Valérie, Azibi, Kemal, Fagart, Jérôme, Fèvre, Anne, Todeschini, Anne Laure, Veitia, Reiner A, Beldjord, Chérif, Delemer, Brigitte, Dodé, Catherine, Young, Jacques, Binart, Nadine

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium von de Brouwer, Arjan P.M., Yntema, Helger G., Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R., de Vries, Bert B.A., van Bokhoven, Hans, Van Esch, Hilde, Frints, Suzanne G.M., Froyen, Guy, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Ronce, Nathalie, Bensalem, Anissa, Moraine, Claude, Poirier, Karine, Castelnau, Laetitia, Saillour, Yoann, Bienvenu, Thierry, Beldjord, Chérif, des Portes, Vincent, Chelly, Jamel, Turner, Gillian, Fullston, Tod, Gecz, Jozef, Kuss, Andreas W., Tzschach, Andreas, Jensen, Lars Riff, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger, Hamel, Ben C.J.

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation von Carrié, Alain, Jun, Lin, Bienvenu, Thierry, Vinet, Marie-Claude, McDonell, Nathalie, Couvert, Philippe, Zemni, Ramzi, Cardona, Ana, Van Buggenhout, Griet, Frints, Suzanna, Hamel, Ben, Moraine, Claude, Ropers, Hans H., Strom, Tim, Howell, Gareth R., Whittaker, Adam, Ross, Mark T., Kahn, Axel, Fryns, Jean-Pierre, Beldjord, Cherif, Marynen, Peter, Chelly, Jamel

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Parental origin of de novo MECP2 mutations in Rett syndrome von Girard, M, Couvert, P, Carrié, A, Tardieu, M, Chelly, J, Beldjord, C, Bienvenu, T

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Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1 von Algalarrondo, Vincent, Wahbi, Karim, Sebag, Frédéric, Gourdon, Geneviève, Beldjord, Chérif, Azibi, Kamel, Balse, Elise, Coulombe, Alain, Fischmeister, Rodolphe, Eymard, Bruno, Duboc, Denis, Hatem, Stéphane N

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Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes von Marcorelles, Pascale, Laquerrière, Annie, Adde-Michel, Christine, Marret, Stéphane, Saugier-Veber, Pascale, Beldjord, Chérif, Friocourt, Gaëlle

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PINK1 and FLNA mutations association: A role for atypical parkinsonism? von Degos, Bertrand, Toussaint, Aurélie, Lesage, Suzanne, Brice, Alexis, Vidailhet, Marie, Beldjord, Chérif, Catala, Martin

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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria von Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale, Castelnau-Ptakhine, Laëtitia, Odent, Sylvie, Loget, Philippe, Kossorotoff, Manoelle, Snoeck, Irina, Plessis, Ghislaine, Parent, Philippe, Beldjord, Cherif, Cardoso, Carlos, Represa, Alfonso, Flint, Jonathan, Keays, David Anthony, Cowan, Nicholas Justin, Chelly, Jamel

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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum von BAHI-BUISSON, Nadia, SOUVILLE, Isabelle, LOUIS LEGER, Pierre, ELIE, Caroline, BODDAERT, Nathalie, BELDJORD, Cherif, CHELLY, Jamel, FRANCIS, Fiona, EUROPEAN CONSORTIUM, Sbh-Lis, FOURNIOL, Franck J, TOUSSAINT, Aurelie, MOORES, Carolyn A, HOUDUSSE, Anne, YVES LEMAITRE, Jean, POIRIER, Karine, KHALAF-NAZZAL, Reham, HULLY, Marie

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New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression von Bouilly, Justine, Roucher-Boulez, Florence, Gompel, Anne, Bry-Gauillard, Hélène, Azibi, Kemal, Beldjord, Cherif, Dodé, Catherine, Bouligand, Jérôme, Mantel, Anne Guiochon, Hécart, Annie-Claude, Delemer, Brigitte, Young, Jacques, Binart, Nadine

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