Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL(TM)3.0DMDfv)

por Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude
Publicado 2023

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

por Morel, Victor, Campana‐Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther‐Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐Sophie, Magdelaine, Corinne, Beze‐Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Publicado 2022

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie...

por Juntas Morales, Raul, Perrin, Aurélien, Solé, Guilhem, Lacourt, Delphine, Pegeot, Henri, Walther-Louvier, Ulrike, Cintas, Pascal, Cances, Claude, Espil, Caroline, Theze, Corinne, Zenagui, Reda, Yauy, Kevin, Cosset, Elodie, Renard, Dimitri, Rigau, Valerie, Maues de Paula, Andre, Uro-Coste, Emmanuelle, Arne-Bes, Marie-Christine, Martin Négrier, Marie-Laure, Leboucq, Nicolas, Acket, Blandine, Malfatti, Edoardo, Biancalana, Valérie, Metay, Corinne, Richard, Pascale, Rendu, John, Rivier, François, Koenig, Michel, Cossée, Mireille
Publicado 2021

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

por Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle
Publicado 2020