HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence

by Kim, Dong-Ho, Langlois, Marc-Andre, Lee, Kwang-Back, Riggs, Arthur D., Puymirat, Jack, Rossi, John J.
Published 2005

RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1

by Klinck, Roscoe, Fourrier, Angélique, Thibault, Philippe, Toutant, Johanne, Durand, Mathieu, Lapointe, Elvy, Caillet-Boudin, Marie-Laure, Sergeant, Nicolas, Gourdon, Geneviève, Meola, Giovanni, Furling, Denis, Puymirat, Jack, Chabot, Benoit
Published 2014

Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus

by Huguet, Aline, Medja, Fadia, Nicole, Annie, Vignaud, Alban, Guiraud-Dogan, Céline, Ferry, Arnaud, Decostre, Valérie, Hogrel, Jean-Yves, Metzger, Friedrich, Hoeflich, Andreas, Baraibar, Martin, Gomes-Pereira, Mário, Puymirat, Jack, Bassez, Guillaume, Furling, Denis, Munnich, Arnold, Gourdon, Geneviève
Published 2012

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

by Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne- Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Pegoraro, Elena, Renieri, Alessandra, Zatloukal, Kurt, Filocamo, Mirella, Lochmüller, Hanns
Published 2015

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

by Dogan, Celine, De Antonio, Marie, Hamroun, Dalil, Varet, Hugo, Fabbro, Marianne, Rougier, Felix, Amarof, Khadija, Arne Bes, Marie-Christine, Bedat-Millet, Anne-Laure, Behin, Anthony, Bellance, Remi, Bouhour, Françoise, Boutte, Celia, Boyer, François, Campana-Salort, Emmanuelle, Chapon, Françoise, Cintas, Pascal, Desnuelle, Claude, Deschamps, Romain, Drouin-Garraud, Valerie, Ferrer, Xavier, Gervais-Bernard, Helene, Ghorab, Karima, Laforet, Pascal, Magot, Armelle, Magy, Laurent, Menard, Dominique, Minot, Marie-Christine, Nadaj-Pakleza, Aleksandra, Pellieux, Sybille, Pereon, Yann, Preudhomme, Marguerite, Pouget, Jean, Sacconi, Sabrina, Sole, Guilhem, Stojkovich, Tanya, Tiffreau, Vincent, Urtizberea, Andoni, Vial, Christophe, Zagnoli, Fabien, Caranhac, Gilbert, Bourlier, Claude, Riviere, Gerard, Geille, Alain, Gherardi, Romain K., Eymard, Bruno, Puymirat, Jack, Katsahian, Sandrine, Bassez, Guillaume
Published 2016

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

by Tremblay, Jacques P, Xiao, Xiao, Aartsma-Rus, Annemieke, Barbas, Carlos, Blau, Helen M, Bogdanove, Adam J, Boycott, Kym, Braun, Serge, Breakefield, Xandra O, Bueren, Juan A, Buschmann, Michael, Byrne, Barry J, Calos, Michele, Cathomen, Toni, Chamberlain, Jeffrey, Chuah, Marinee, Cornetta, Kenneth, Davies, Kay E, Dickson, J George, Duchateau, Philippe, Flotte, Terence R, Gaudet, Daniel, Gersbach, Charles A, Gilbert, Renald, Glorioso, Joseph, Herzog, Roland W, High, Katherine A, Huang, Wenlin, Huard, Johnny, Joung, J Keith, Liu, Depei, Liu, Dexi, Lochmüller, Hanns, Lustig, Lawrence, Martens, Jeffrey, Massie, Bernard, Mavilio, Fulvio, Mendell, Jerry R, Nathwani, Amit, Ponder, Katherine, Porteus, Matthew, Puymirat, Jack, Samulski, Jude, Takeda, Shin'ichi, Thrasher, Adrian, VandenDriessche, Thierry, Wei, Yuquan, Wilson, James M, Wilton, Steve D, Wolfe, John H, Gao, Guangping
Published 2013