ADCY5-Related Dyskinesia: Comments on Characteristic Manifestations and Variant-Associated Severity

Por Raskind, Wendy H., Friedman, Jennifer R., Roze, Emmanuel, Méneret, Aurélie, Chen, Dong-Hui, Bird, Thomas D.
Publicado no Mov Disord (2016)

ADCY5 Mutation Carriers Display Pleiotropic Paroxysmal Day and Nighttime Dyskinesias

Por Friedman, Jennifer R, Méneret, Aurélie, Chen, Dong-Hui, Trouillard, Oriane, Vidailhet, Marie, Raskind, Wendy H., Roze, Emmanuel
Publicado no Mov Disord (2015)

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Por Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Moland, Siri, Depienne, Christel, Dusart, Isabelle, Méneret, Aurélie, Ruiz, Marta, Dubacq, Caroline, Roze, Emmanuel
Publicado no Tremor Other Hyperkinet Mov (N Y) (2016)

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia

Por Ruiz, Marta, Perez-Garcia, Georgina, Ortiz-Virumbrales, Maitane, Méneret, Aurelie, Morant, Andrika, Kottwitz, Jessica, Fuchs, Tania, Bonet, Justine, Gonzalez-Alegre, Pedro, Hof, Patrick R., Ozelius, Laurie J., Ehrlich, Michelle E.
Publicado no Hum Mol Genet (2015)

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Por Depienne, Christel, Bouteiller, Delphine, Méneret, Aurélie, Billot, Ségolène, Groppa, Sergiu, Klebe, Stephan, Charbonnier-Beaupel, Fanny, Corvol, Jean-Christophe, Saraiva, Jean-Paul, Brueggemann, Norbert, Bhatia, Kailash, Cincotta, Massimo, Brochard, Vanessa, Flamand-Roze, Constance, Carpentier, Wassila, Meunier, Sabine, Marie, Yannick, Gaussen, Marion, Stevanin, Giovanni, Wehrle, Rosine, Vidailhet, Marie, Klein, Christine, Dusart, Isabelle, Brice, Alexis, Roze, Emmanuel
Publicado em 2012

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Por Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel
Publicado em 2014

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations

Por Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R., Korvatska, Olena, Gad, Alona, Bonkowski, Emily S., Stessman, Holly A., Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y., Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M., Mackenzie, Katherine M., Swanson, Phillip D., Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M., Dorschner, Michael O., Weiss, Michael, Eichler, Evan E., Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D., Raskind, Wendy H.
Publicado no Neurology (2015)