Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Autor Maincent, Kim, Héron, Bénédicte, Billette de Villemeur, Thierry, Mayer, Michèle
Vydáno v Orphanet J Rare Dis (2018)

Congenital immobility and stiffness related to biallelic ATAD1 variants

Autor Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril
Vydáno v Neurol Genet (2020)

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Autor Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Vydáno 2013

Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial

Autor Seferian, Andreea Mihaela, Moraux, Amélie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Annoussamy, Mélanie, Mayer, Michèle, Maincent, Kim, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Vydáno v PLoS One (2015)

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Autor Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Vydáno 2013

Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

Autor Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Vydáno v PLoS One (2015)