Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature von Nizon, Mathilde, Andrieux, Joris, Rooryck, Caroline, de Blois, Marie-Christine, Bourel-Ponchel, Emilie, Bourgois, Béatrice, Boute, Odile, David, Albert, Delobel, Bruno, Duban-Bedu, Bénédicte, Giuliano, Fabienne, Goldenberg, Alice, Grotto, Sarah, Héron, Delphine, Karmous-Benailly, Houda, Keren, Boris, Lacombe, Didier, Lapierre, Jean-Michel, Le Caignec, Cédric, Le Galloudec, Eric, Le Merrer, Martine, Le Moing, Anne-Gaëlle, Mathieu-Dramard, Michèle, Nusbaum, Sylvie, Pichon, Olivier, Pinson, Lucile, Raoul, Odile, Rio, Marlène, Romana, Serge, Roubertie, Agnès, Colleaux, Laurence, Turleau, Catherine, Vekemans, Michel, Nabbout, Rima, Malan, Valérie

Volltext

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy von Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N, Sola, Maria, Delettre, Cécile

Volltext

Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study von Lagarde, Stanislas, Villeneuve, Nathalie, Trébuchon, Agnès, Kaphan, Elsa, Lepine, Anne, McGonigal, Aileen, Roubertie, Agathe, Barthez, Marie‐Anne J., Trommsdorff, Valérie, Lefranc, Jérémie, Wehbi, Samer, Portes, Vincent, Laguitton, Virginie, Quartier, Pierre, Scavarda, Didier, Giusiano, Bernard, Milh, Mathieu, Bulteau, Christine, Bartolomei, Fabrice

Volltext

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females von Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric

Volltext

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases von Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu

Volltext

Functional classification of ATM variants in ataxia‐telangiectasia patients von Fiévet, Alice, Bellanger, Dorine, Rieunier, Guillaume, Dubois d'Enghien, Catherine, Sophie, Julia, Calvas, Patrick, Carriere, Jean‐Paul, Anheim, Mathieu, Castrioto, Anna, Flabeau, Olivier, Degos, Bertrand, Ewenczyk, Claire, Mahlaoui, Nizar, Touzot, Fabien, Suarez, Felipe, Hully, Marie, Roubertie, Agathe, Aladjidi, Nathalie, Tison, François, Antoine‐Poirel, Hélène, Dahan, Karine, Doummar, Diane, Nougues, Marie‐Christine, Ioos, Christine, Rougeot, Christelle, Masurel, Alice, Bourjault, Caroline, Ginglinger, Emmanuelle, Prieur, Fabienne, Siri, Aurélie, Bordigoni, Pierre, Nguyen, Karine, Philippe, Noel, Bellesme, Céline, Demeocq, François, Altuzarra, Cecilia, Mathieu‐Dramard, Michèle, Couderc, Fanny, Dörk, Thilo, Auger, Nathalie, Parfait, Béatrice, Abidallah, Khadija, Moncoutier, Virginie, Collet, Agnès, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

Volltext

SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium von Olivier, Guillaume, Brabet, Philippe, Pirot, Nelly, Broyon, Morgane, Guillou, Laurent, Cazevieille, Chantal, Sar, Chamroeun, Quiles, Melanie, Sarzi, Emmanuelle, Pequignot, Marie, Andreo, Ervann, Roubertie, Agathe, Meunier, Isabelle, Muller, Agnès, Kalatzis, Vasiliki, Manes, Gaël

Volltext

SPACR Encoded by IIMPG1/I Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium von Olivier, Guillaume, Brabet, Philippe, Pirot, Nelly, Broyon, Morgane, Guillou, Laurent, Cazevieille, Chantal, Sar, Chamroeun, Quiles, Melanie, Sarzi, Emmanuelle, Pequignot, Marie, Andreo, Ervann, Roube, Meunier, Isabelle, Muller, Agnès, Kalatzis, Vasiliki, Manes, Gaël

Volltext

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations von Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

Volltext

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome von Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

Volltext

Type I hyperprolinemia: genotype/phenotype correlations von Guilmatre, Audrey, Legallic, Solenn, Steel, Gary, Willis, Alecia, Di Rosa, Gabriella, Goldenberg, Alice, Drouin-Garraud, Valérie, Guet, Agnès, Mignot, Cyril, Des Portes, Vincent, Valayannopoulos, Vassili, Van Maldergem, Lionel, Hoffman, Jodi D, Izzi, Claudia, Espil-Taris, Caroline, Orcesi, Simona, Bonafé, Luisa, Le Galloudec, Eric, Maurey, Hélène, Ioos, Christine, Afenjar, Alexandra, Blanchet, Patricia, Echenne, Bernard, Roubertie, Agathe, Frebourg, Thierry, Valle, David, Campion, Dominique

Volltext

Epileptic patients with de novo STXBP 1 mutations: Key clinical features based on 24 cases von Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, de Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu

Volltext