Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

由 Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
發表在 Brain (2020)

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

由 Nicolas, Gaël, Wallon, David, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Rovelet-Lecrux, Anne, Coutant, Sophie, Le Guennec, Kilan, Bacq, Delphine, Garnier, Jean-Guillaume, Olaso, Robert, Boland, Anne, Meyer, Vincent, Deleuze, Jean-François, Munter, Hans Markus, Bourque, Guillaume, Auld, Daniel, Montpetit, Alexandre, Lathrop, Mark, Guyant-Maréchal, Lucie, Martinaud, Olivier, Pariente, Jérémie, Rollin-Sillaire, Adeline, Pasquier, Florence, Le Ber, Isabelle, Sarazin, Marie, Croisile, Bernard, Boutoleau-Bretonnière, Claire, Thomas-Antérion, Catherine, Paquet, Claire, Sauvée, Mathilde, Moreaud, Olivier, Gabelle, Audrey, Sellal, François, Ceccaldi, Mathieu, Chamard, Ludivine, Blanc, Frédéric, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier
發表在 Eur J Hum Genet (2016)