Highlighting the Dystonic Phenotype Related to GNAO1

por Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu
Publicado 2022

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

por Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Publicado 2020