Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

by Suzanne Lesage, Suzanne Lesage, Suzanne Lesage, Suzanne Lesage, Marion Houot, Marion Houot, Graziella Mangone, Graziella Mangone, Graziella Mangone, Graziella Mangone, Graziella Mangone, Christelle Tesson, Christelle Tesson, Christelle Tesson, Christelle Tesson, Hélène Bertrand, Hélène Bertrand, Hélène Bertrand, Hélène Bertrand, Sylvie Forlani, Sylvie Forlani, Sylvie Forlani, Sylvie Forlani, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Christine Brefel-Courbon, Christine Brefel-Courbon, Emmanuel Broussolle, Emmanuel Broussolle, Emmanuel Broussolle, Stéphane Thobois, Stéphane Thobois, Stéphane Thobois, Philippe Damier, Franck Durif, Emmanuel Roze, Emmanuel Roze, Emmanuel Roze, Emmanuel Roze, Emmanuel Roze, François Tison, David Grabli, David Grabli, David Grabli, David Grabli, David Grabli, Fabienne Ory-Magne, Fabienne Ory-Magne, Bertrand Degos, Bertrand Degos, François Viallet, François Viallet, Florence Cormier-Dequaire, Florence Cormier-Dequaire, Florence Cormier-Dequaire, Florence Cormier-Dequaire, Florence Cormier-Dequaire, Anne-Marie Ouvrard-Hernandez, Marie Vidailhet, Marie Vidailhet, Marie Vidailhet, Marie Vidailhet, Marie Vidailhet, Ebba Lohmann, Andrew Singleton, Jean-Christophe Corvol, Jean-Christophe Corvol, Jean-Christophe Corvol, Jean-Christophe Corvol, Jean-Christophe Corvol, Alexis Brice, Alexis Brice, Alexis Brice, Alexis Brice, for the French Parkinson disease Genetics Study Group(PDG)
Published 2020-07-01

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

by Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitã;o, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann
Published 2019-11-01

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

by Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Published 2019-10-01

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Published 2019-10-01