Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

מאת 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
הוצא לאור ב Ann Clin Transl Neurol (2019)

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

מאת Charif, Majida, Wong, Yvette C., Kim, Soojin, Guichet, Agnès, Vignal, Catherine, Zanlonghi, Xavier, Bensaid, Philippe, Procaccio, Vincent, Bonneau, Dominique, Amati-Bonneau, Patrizia, Reynier, Pascal, Krainc, Dimitri, Lenaers, Guy
הוצא לאור ב Mol Neurodegener (2021)

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce...

מאת Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique
יצא לאור 2010

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

מאת Colin, Estelle, Huynh Cong, Evelyne, Mollet, Géraldine, Guichet, Agnès, Gribouval, Olivier, Arrondel, Christelle, Boyer, Olivia, Daniel, Laurent, Gubler, Marie-Claire, Ekinci, Zelal, Tsimaratos, Michel, Chabrol, Brigitte, Boddaert, Nathalie, Verloes, Alain, Chevrollier, Arnaud, Gueguen, Naig, Desquiret-Dumas, Valérie, Ferré, Marc, Procaccio, Vincent, Richard, Laurence, Funalot, Benoit, Moncla, Anne, Bonneau, Dominique, Antignac, Corinne
הוצא לאור ב Am J Hum Genet (2014)

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

מאת Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe
יצא לאור 2011