Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy

por Trundell, Dylan, Le Scouiller, Stephanie, Gorni, Ksenija, Seabrook, Timothy, Vuillerot, Carole
Publicado 2020

Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy

por Trundell, Dylan, Le Scouiller, Stephanie, Le Goff, Laure, Gorni, Ksenija, Vuillerot, Carole
Publicado 2020

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children

por Catteruccia, Michela, Vuillerot, Carole, Vaugier, Isabelle, Leclair, Danielle, Azzi, Viviane, Viollet, Louis, Estournet, Brigitte, Bertini, Enrico, Quijano-Roy, Susana
Publicado 2015

Motor function performance in individuals with RYR1‐related myopathies

por Witherspoon, Jessica W., Vuillerot, Carole, Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Jain, Minal S., Meilleur, Katherine G.
Publicado 2019

Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy

por Ropars, Juliette, Lempereur, Mathieu, Vuillerot, Carole, Tiffreau, Vincent, Peudenier, Sylviane, Cuisset, Jean-Marie, Pereon, Yann, Leboeuf, Fabien, Delporte, Ludovic, Delpierre, Yannick, Gross, Raphaël, Brochard, Sylvain
Publicado 2016

A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data

por Duong, Tina, Staunton, Hannah, Braid, Jessica, Barriere, Aurelie, Trzaskoma, Ben, Gao, Ling, Willgoss, Tom, Cruz, Rosangel, Gusset, Nicole, Gorni, Ksenija, Randhawa, Sharan, Yang, Lida, Vuillerot, Carole
Publicado 2022

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

Emerging health challenges for children with physical disabilities and their parents during the COVID-19 pandemic: The ECHO French survey

por Cacioppo, Marine, Bouvier, Sandra, Bailly, Rodolphe, Houx, Laetitia, Lempereur, Mathieu, Mensah-Gourmel, Johanne, Kandalaft, Christèle, Varengue, Roxane, Chatelin, Alain, Vagnoni, Jacky, Vuillerot, Carole, Gautheron, Vincent, Dinomais, Mickael, Dheilly, Elea, Brochard, Sylvain, Pons, Christelle
Publicado 2021

Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a...

por Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, Vuillerot, Carole
Publicado 2021

Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’...

por Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, Vuillerot, Carole
Publicado 2021

Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)

por Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

por Annoussamy, Mélanie, Seferian, Andreea M., Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐Le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent
Publicado 2020

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

por Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

por Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Publicado 2018

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

por Pini, Jonathan, Siciliano, Gabriele, Lahaut, Pauline, Braun, Serge, Segovia-Kueny, Sandrine, Kole, Anna, Hérnando, Ines, Selb, Julij, Schirinzi, Erika, Duong, Tina, Hogrel, Jean-Yves, Olmedo, José Javier Serrano, Vissing, John, Servais, Laurent, Vincent-Genod, Dominique, Vuillerot, Carole, Bannwarth, Sylvie, Eggenspieler, Damien, Vicart, Savine, Diaz-Manera, Jordi, Lochmüller, Hanns, Sacconi, Sabrina
Publicado 2021

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

por Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle
Publicado 2020

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

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

por Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.
Publicado 2018