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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext