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

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

por Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique
Publicado 2023

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

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

por Ortuño-Costela, María del Carmen, Cerrada, Victoria, Moreno-Izquierdo, Ana, García-Consuegra, Inés, Laberthonnière, Camille, Delourme, Mégane, Garesse, Rafael, Arenas, Joaquín, Fuster García, Carla, García García, Gema, Millán, José María, Magdinier, Frédérique, Gallardo, María Esther
Publicado 2022

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

por Dard, Laetitia, Hubert, Christophe, Esteves, Pauline, Blanchard, Wendy, Bou About, Ghina, Baldasseroni, Lyla, Dumon, Elodie, Angelini, Chloe, Delourme, Mégane, Guyonnet-Dupérat, Véronique, Claverol, Stéphane, Fontenille, Laura, Kissa, Karima, Séguéla, Pierre-Emmanuel, Thambo, Jean-Benoît, Nicolas, Lévy, Herault, Yann, Bellance, Nadège, Dias Amoedo, Nivea, Magdinier, Frédérique, Sorg, Tania, Lacombe, Didier, Rossignol, Rodrigue
Publicado 2022