Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy

por Delourme, Megane, Charlene, Chaix, Gerard, Laurene, Ganne, Benjamin, Perrin, Pierre, Vovan, Catherine, Bertaux, Karine, Nguyen, Karine, Bernard, Rafaëlle, Magdinier, Frederique
Publicado 2023

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

por Guien, Céline, Blandin, Gaëlle, Lahaut, Pauline, Sanson, Benoît, Nehal, Katia, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Lévy, Nicolas, Sacconi, Sabrina, Béroud, Christophe
Publicado 2018

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 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 2013

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

por Roche, Stéphane, Dion, Camille, Broucqsault, Natacha, Laberthonnière, Camille, Gaillard, Marie-Cécile, Robin, Jérôme D., Lagarde, Arnaud, Puppo, Francesca, Vovan, Catherine, Chaix, Charlene, Campana, Emmanuelle Salort, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Nguyen, Karine, Magdinier, Frédérique
Publicado 2019

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

por Salort-Campana, Emmanuelle, Fatehi, Farzad, Beloribi-Djefaflia, Sadia, Roche, Stéphane, Nguyen, Karine, Bernard, Rafaelle, Cintas, Pascal, Solé, Guilhem, Bouhour, Françoise, Ollagnon, Elisabeth, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Kuntzer, Thierry, Levy, Nicolas, Magdinier, Frédérique, Attarian, Shahram
Publicado 2020

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

por Laberthonnière, Camille, Novoa‐del‐Toro, Elva‐Maria, Delourme, Mégane, Chevalier, Raphaël, Broucqsault, Natacha, Mazaleyrat, Kilian, Streichenberger, Nathalie, Manel, Véronique, Bernard, Rafaëlle, Salort Campana, Emmanuelle, Attarian, Shahram, Nguyen, Karine, Robin, Jérôme D., Baudot, Anais, Magdinier, Frédérique
Publicado 2021

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 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 2012

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

por Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, Sacconi, Sabrina
Publicado 2022

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 2015

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

por Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique
Publicado 2019