Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

by Kergourlay, Virginie, Blandin, Gaëlle, Blanck, Véronique, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Published 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

by Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc
Published 2015

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

by Blandin, Gaëlle, Marchand, Sylvie, Charton, Karine, Danièle, Nathalie, Gicquel, Evelyne, Boucheteil, Jean-Baptiste, Bentaib, Azéddine, Barrault, Laetitia, Stockholm, Daniel, Bartoli, Marc, Richard, Isabelle
Published 2013

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

by Martinez, Emmanuelle, Silvy, Françoise, Fina, Fréderic, Bartoli, Marc, Krahn, Martin, Barlesi, Fabrice, Figarella-Branger, Dominique, Iovanna, Juan, Laugier, René, Ouaissi, Mehdi, Lombardo, Dominique, Mas, Eric
Published 2015

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

by Lostal, William, Bartoli, Marc, Roudaut, Carinne, Bourg, Nathalie, Krahn, Martin, Pryadkina, Marina, Borel, Perrine, Suel, Laurence, Roche, Joseph A., Stockholm, Daniel, Bloch, Robert J., Levy, Nicolas, Bashir, Rumaisa, Richard, Isabelle
Published 2012

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

by 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
Published 2013

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

by 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
Published 2016

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

by 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
Published 2015