Health status of individuals with polyhandicap across a 5-year follow-up period by Rousseau, Marie-Christine, Hamouda, Ilyes, Aim, Marie-Anastasie, Anzola, Any Beltran, Maincent, Kim, Lind, Katia, Felce, Agnès, Auquier, Pascal, De Villemeur, Thierry Billette, Baumstarck, Karine

Get full text

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study by Aim, Marie‐Anastasie, Rousseau, Marie‐Christine, Hamouda, Ilyes, Anzola, Any Beltran, Villemeur, Thierry Billette, Milh, Mathieu, Maincent, Kim, Lind, Katia, Auquier, Pascal, Baumstarck, Karine, Dany, Lionel

Get full text

Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study by Baumstarck, Karine, Hamouda, Ilyes, Aim, Marie-Anastasie, Anzola, Any Beltran, Khaldi-Cherif, Sherezad, Felce, Agnès, Maincent, Kim, Lind, Katia, Auquier, Pascal, Billette de Villemeur, Thierry, Rousseau, Marie-Christine

Get full text

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial by 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

Get full text

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses by Maincent, Kim, Héron, Bénédicte, Billette de Villemeur, Thierry, Mayer, Michèle

Get full text

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial by 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

Get full text

Dendritic cells for NK/LAK activation: rationale for multicellular immunotherapy in neuroblastoma patients by Valteau-Couanet, Dominique, Leboulaire, Christophe, Maincent, Kim, Tournier, Muriel, Hartmann, Olivier, Bénard, Jean, Beaujean, Françoise, Boccaccio, Catherine, Zitvogel, Laurence, Angevin, Eric

Get full text

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966 by Bergqvist, Christina, Servy, Amandine, Valeyrie-Allanore, Laurence, Ferkal, Salah, Combemale, Patrick, Wolkenstein, Pierre

Get full text

Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1 by Pacot, Laurence, Sabbagh, Audrey, Sohier, Pierre, Hadjadj, Djihad, Ye, Manuela, Boland-Auge, Anne, Bacq-Daian, Delphine, Laurendeau, Ingrid, Briand-Suleau, Audrey, Deleuze, Jean-François, Margueron, Raphaël, Vidaud, Michel, Ferkal, Salah, Parfait, Béatrice, Vidaud, Dominique, Pasmant, Eric, Wolkenstein, Pierre

Get full text

The French EVAL-PLH cohort of persons with polyhandicap by Hamouda, Ilyes, Rousseau, Marie-Christine, Beltran Anzola, Any, Aim, Marie-Anastasie, de Villemeur, Thierry Billette, Auquier, Pascal, Baumstarck, Karine

Get full text

Early onset collagen VI myopathies: Genetic and clinical correlations by Briñas, Laura, Richard, Pascale, Quijano-Roy, Susana, Gartioux, Corine, Ledeuil, Céline, Lacène, Emmanuelle, Makri, Samira, Ferreiro, Ana, Maugenre, Svetlana, Topaloglu, Haluk, Haliloglu, Göknur, Pénisson-Besnier, Isabelle, Jeannet, Pierre-Yves, Merlini, Luciano, Navarro, Carmen, Toutain, Annick, Chaigne, Denys, Desguerre, Isabelle, de Die-Smulders, Christine, Dunand, Murielle, Echenne, Bernard, Eymard, Bruno, Kuntzer, Thierry, Maincent, Kim, Mayer, Michèle, Plessis, Ghislaine, Rivier, François, Roelens, Filip, Stojkovic, Tanya, Lía Taratuto, Ana, Lubieniecki, Fabiana, Monges, Soledad, Tranchant, Christine, Viollet, Louis, Romero, Norma B., Estournet, Brigitte, Guicheney, Pascale, Allamand, Valérie

Get full text

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

Get full text

Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study by Rousseau, Marie-Christine, Baumstarck, Karine, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Moheng, Benjamin, Loundou, Anderson, Billette de Villemeur, Thierry, Auquier, Pascal

Get full text

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients by Bergqvist, C., Fertitta, L., Ezzedine, K., Jannic, A., Zehou, O., Ferkal, S., Combemale, P., Barbarot, S., Mazereeuw‐Hautier, J., Sbidian, E., Wolkenstein, P., Adamski, Henri, Baumann‐Morel, Clarisse, Bellanné, Christine, Bieth, Eric, Bousquet, Pascal, Brandt, Christian, Balguerie, Xavier, Castelnau, Pierre, Chaix, Yves, Chevrant‐Breton, Jacqueline, Collet, Evelyne, Cuny, Jean‐François, Chastagner, Pascal, Chandeclerc, Marie‐Lorraine, Cheuret, Emmanuel, Cintas, Pascal, Dollfus, Helene, Derancourt, Christian, Drouin‐Garraud, Valérie, d'Incan, Michel, De Leersnyder, Hélène, Dereure, Olivier, Doumar, Diane, Fabre, Nicolas, Ferraro, Vincenza, Francannet, Christine, Faivre, Laurence, Fellmann, Florence, Feugier, Nathalie, Gaillard, Dominique, Goldenberg, Alice, Guyant‐Marechal, Lucie, Guillot, Bernard, Guillamo, Jean‐Sebastien, Hadj‐Rabia, Smaïl, Hamel‐Teillac, Dominique, Kemlin, Isabelle, Lacour, Jean‐Philippe, Laithier, Veronique, Lesavre, Nathalie, Lyonnet, Stanislas, Maincent, Kim, Maradeix, Sophie, Machet, Laurent, Mansat, Eva, Meyer, Nicolas, Mozelle, Monique, Celine Moret, Jean Christophe Moreno, Puzenat, Eric, Parfait, Béatrice, Pinson, Stéphane, Pasmant, Eric, Rodriguez, Diana, Stalder, Jean‐François, Schweitzer, Elisabeth, Thalamas, Claire, Thauvin, Christel, Vidaud, Dominique, Vidaud, Michel, Verloes, Alain, Zeller, Jacques

Get full text

Congenital immobility and stiffness related to biallelic ATAD1 variants by 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

Get full text

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

Get full text

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

Get full text

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model by Leclercq, Sandrine, Maincent, Kim, Baverel, Françoise, Tessier, Dominique Le, Letourneur, Franck, Lebbar, Aziza, Dupont, Jean‐Michel

Get full text

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene by Portes, Vincent des, Boddaert, Nathalie, Sacco, Silvia, Briault, Sylvain, Maincent, Kim, Bahi, Nadia, Gomot, Marie, Ronce, Nathalie, Bursztyn, Joseph, Adamsbaum, Catherine, Zilbovicius, Monica, Chelly, Jamel, Moraine, Claude

Get full text

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model by Leclercq, Sandrine, Maincent, Kim, Baverel, Françoise, Tessier, Dominique Le, Letourneur, Franck, Lebbar, Aziza, Dupont, Jean-Michel

Get full text