Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Por Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Publicado no J Neuromuscul Dis (2015)

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

Por Caruso, Nathalie, Herberth, Balàzs, Bartoli, Marc, Puppo, Francesca, Dumonceaux, Julie, Zimmermann, Angela, Denadai, Simon, Lebossé, Marie, Roche, Stephane, Geng, Linda, Magdinier, Frederique, Attarian, Shahram, Bernard, Rafaelle, Maina, Flavio, Levy, Nicolas, Helmbacher, Françoise
Publicado em 2013

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Por Barat-Houari, Mouna, Nguyen, Karine, Bernard, Rafaëlle, Fernandez, Céline, Vovan, Catherine, Bareil, Corinne, Van Kien, Philippe Khau, Thorel, Delphine, Tuffery-Giraud, Sylvie, Vasseur, Francis, Attarian, Shahram, Pouget, Jean, Girardet, Anne, Lévy, Nicolas, Claustres, Mireille
Publicado em 2010

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Por Gaillard, Marie-Cécile, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle Salort, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc
Publicado no BMC Med Genet (2016)

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Por Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn
Publicado em 2012

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Por Salort-Campana, Emmanuelle, Nguyen, Karine, Bernard, Rafaelle, Jouve, Elisabeth, Solé, Guilhem, Nadaj-Pakleza, Aleksandra, Niederhauser, Julien, Charles, Estelle, Ollagnon, Elisabeth, Bouhour, Françoise, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Desnuelle, Claude, Tranchant, Christine, Vial, Christophe, Magdinier, Frederique, Bartoli, Marc, Arne-Bes, Marie-Christine, Ferrer, Xavier, Kuntzer, Thierry, Levy, Nicolas, Pouget, Jean, Attarian, Shahram
Publicado no Orphanet J Rare Dis (2015)