An algorithm for discontinuing mechanical ventilation in boys with x-linked myotubular myopathy after positive response to gene therapy: the ASPIRO experience by Graham, Robert J, Amin, Reshma, Demirel, Nadir, Edel, Lisa, Lilien, Charlotte, MacBean, Victoria, Rafferty, Gerrard F, Sawnani, Hemant, Schön, Carola, Smith, Barbara K, Syed, Faiza, Sarazen, Micaela, Prasad, Suyash, Rico, Salvador, Perez, Geovanny F

Get full text

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

Get full text

Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy by Lilien, Charlotte, Reyngoudt, Harmen, Seferian, Andreea Mihaela, Gidaro, Teresa, Annoussamy, Mélanie, Chê, Virginie, Decostre, Valérie, Ledoux, Isabelle, Le Louër, Julien, Guemas, Eric, Muntoni, Francesco, Hogrel, Jean‐Yves, Carlier, Pierre Georges, Servais, Laurent

Get full text

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled tria... by Nascimento, Andres, Vuillerot, Carole, Boespflug-Tanguy, Odile, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Kletzl, Heidemarie, Day, John W, Volpe, Joseph J., Posner, John, Daron, Aurore, Delbeke, Patricia, Wittevrongel, Sylvia, De Vos, Elke, De Waele, Liesbeth, Prufer de Queiroz Campos Araujo, Alexandra, Haefeli, Lorena, Chiu, Angela, Oskoui, Maryam, Toffoli, Daniela, Turgeon Desilets, Sarah, Wang, Yi, Shen, Li, Li, Hui, Sang, Tian, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Kern, Ivana, Momtchilova, Marta Milkova, Milascevic, Darko, Aubertin, Guillaume, Coopman, Stephanie, Debruyne, Philippe, Derlyn, Gilles, Danjoux, Loïc, Deladrière, Élodie, Germa, Virginie, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Kirschner, Janbernd, Lagréze, Wolf, Bertini, Enrico, D'Amico, Adele, Carlesi, Adelina, Zuffi, Ambra, Comi, Giacomo Pietro, Daniele, Velardo, Minorini, Valeria, Fassini, Federica, Foa, Michaela, Parente, Valeria, Masson, Riccardo, Tremolada, Gemma, Amorelli, Giulia Maria, Orazi, Lorenzo, Coratti, Giorgia, Morishita, Yuko, Goto, Miwako, Tsutsui, Saki, Takatsuji, Yuta, Komaki, Hirofumi, Omori, Miina, Nagura, Hiroe, Usui, Manami, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Fujitani, Junko, Seki, Maiko, Fukuyama, Koji, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Sikorski, Adam, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Steinborn, Barbara, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Leppenen, Natalya, Brankovic, Vesna, Djokic, Olivera, Planas Pascual, Bernat, Salinas, Marta Peña, Padros, Nuria, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Kadayifçilar, Sibel, Karaduman, Aynur Ayse, Chiriboga, Claudia, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan

Get full text

Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial by Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Ridout, Deborah, Muntoni, Francesco, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, .O'Reilly, Emer, Guglieri, Michela, Bettolo, Chiara, James, Meredith, Sodhi, Jassi, Willis, Tracey, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma, Warner, Sinead, Reading, Emily, Benson, Lucy, Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Durso, Sarah, White, Kay, Hinde, Neil, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, Davis, Hayley, Murugan, Archana, Lynch, Mollie, Milton, Emily, Wills, Lucy, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Williamson, Sarah, Degoede, Christian, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Gates, Sarah, Shah, Ayaz, .McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Servais, Laurent, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Deconinck, Nicolas, de Groot, Imelda, Horrocks, Iain, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M

Get full text

266th ENMC International Workshop: Remote delivery of clinical care and validation of remote clinical outcome assessments in neuromuscular disorders: A response to COVID-19 and pro... by Alfano, Lindsay N., James, Meredith K., Ramdharry, Gita M., Lowes, Linda P., Coats, Julie, Corderí, José, Costello, Annette, Eagle, Michelle, Elseed, Maha, Gaeta, Alessandra, Gordish-Dressman, Heather, Davies, Elin Haf, Human, Anri, Knudsen, Lone, Leffler, Mindy, Levy, Jennifer, Lilien, Charlotte, Mancini, Maria, Mayhew, Anna, McGrattan, Katlyn, Muni-Lofra, Robert, Peck, Allison, Peck, Nathan, Prada, Valeria, Pylarinou, Hara, Rose, Kristy, Werlauff, Ulla

Get full text

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy by Fouarge, Eve, Monseur, Arnaud, Boulanger, Bruno, Annoussamy, Mélanie, Seferian, Andreea M, De Lucia, Silvana, Lilien, Charlotte, Thielemans, Leen, Paradis, Khazal, Cowling, Belinda S, Freitag, Chris, Carlin, Bradley P, Servais, Laurent

Get full text

Patients' Perceptions of Nusinersen Effects According to Their Responder Status by Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney J, Benmhammed, Noor, Médard, Laurie, Servais, Laurent

Get full text

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

Get full text

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis by Jamalpoor, Amer, van Gelder, Charlotte AGH, Yousef Yengej, Fjodor A, Zaal, Esther A, Berlingerio, Sante P, Veys, Koenraad R, Pou Casellas, Carla, Voskuil, Koen, Essa, Khaled, Ammerlaan, Carola ME, Rega, Laura Rita, van der Welle, Reini EN, Lilien, Marc R, Rookmaaker, Maarten B, Clevers, Hans, Klumperman, Judith, Levtchenko, Elena, Berkers, Celia R, Verhaar, Marianne C, Altelaar, Maarten, Masereeuw, Rosalinde, Janssen, Manoe J

Get full text

AGORA, a data- and biobank for birth defects and childhood cancer by van Rooij, Iris A.L.M., van der Zanden, Loes F.M., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Wijers, Charlotte H.W., Thonissen, Michelle, Dokter, Elisabeth M.J., Marcelis, Carlo L.M., de Blaauw, Ivo, Wijnen, Marc H.W.A., Hoogerbrugge, Peter M., Bokkerink, Jos P.M., Schreuder, Michiel F., Koster-Kamphuis, Linda, Cornelissen, Elisabeth A.M., Kapusta, Livia, van Heijst, Arno F.J., Liem, Kian D., de Gier, Robert P.E., Kuijpers-Jagtman, Anne Marie, Admiraal, Ronald J.C., Bergé, Stefaan J., van der Biezen, Jan Jaap, Verdonck, An, Vander Poorten, Vincent, Hens, Greet, Roosenboom, Jasmien, Lilien, Marc R., de Jong, Tom P., Broens, Paul, Wijnen, Rene, Brooks, Alice, Franke, Barbara, Brunner, Han G., Carels, Carine E.L., Knoers, Nine V.A.M., Feitz, Wout F.J., Roeleveld, Nel

Get full text