DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy von Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Lane, Henry, Jenkins, Madeline, Dieye, Ibrahima J, Ward, Susan, McDonald, Craig, Goemans, Nathalie H, Niks, Erik, Wong, Brenda, Servais, Laurent, Straub, Volker, Guglieri, Michela, de Groot, Imelda J.M, Chesshyre, Mary, Tian, Cuixia Y, Manzur, Adnan, Mercuri, Eugenio, Aartsma-Rus, Annemieke

Volltext

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy von Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

Volltext

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051 von van Deutekom, Judith C, Janson, Anneke A, Ginjaar, Ieke B, Frankhuizen, Wendy S, Aartsma-Rus, Annemieke, Bremmer-Bout, Mattie, den Dunnen, Johan T, Koop, Klaas, van der Kooi, Anneke J, Goemans, Nathalie M, de Kimpe, Sjef J, Ekhart, Peter F, Venneker, Edna H, Platenburg, Gerard J, Verschuuren, Jan J, van Ommen, Gert-Jan B

Volltext

Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials von McDonald, Craig M, Signorovitch, James, Mercuri, Eugenio, Niks, Erik H, Wong, Brenda, Fillbrunn, Mirko, Sajeev, Gautam, Yim, Erica, Dieye, Ibrahima, Miller, Debra, Ward, Susan J, Goemans, Nathalie

Volltext

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study von Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Done, Nicolae, Yao, Zhiwen, Goemans, Nathalie, McDonald, Craig, Mercuri, Eugenio, Niks, Erik H, Wong, Brenda, Vandenborne, Krista, Straub, Volker, de Groot, Imelda J M, Tian, Cuixia, Manzur, Adnan, Dieye, Ibrahima, Lane, Henry, Ward, Susan J, Servais, Laurent

Volltext

Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy von Geuens, Sam, Van Dessel, Jeroen, Kan, Hermien E., Govaarts, Rosanne, Niks, Erik H., Goemans, Nathalie, Lemiere, Jurgen, Doorenweerd, Nathalie, De Waele, Liesbeth

Volltext

Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy von Geuens, Sam, Van Dessel, Jeroen, Kan, Hermien E, Govaarts, Rosanne, Niks, Erik H, Goemans, Nathalie, Lemiere, Jurgen, Doorenweerd, Nathalie, De Waele, Liesbeth

Volltext

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial von McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, Mercuri, Eugenio, Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe

Volltext

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) von Grohmann, Katja, Varon, Raymonda, Stolz, Piroschka, Schuelke, Markus, Janetzki, Catrin, Bertini, Enrico, Bushby, Kate, Muntoni, Francesco, Ouvrier, Robert, Van Maldergem, Lionel, Goemans, Nathalie M. L. A., Lochmüller, Hanns, Eichholz, Stephan, Adams, Coleen, Bosch, Friedrich, Grattan-Smith, Padraic, Navarro, Carmen, Neitzel, Heidemarie, Polster, Tilman, Topaloğlu, Haluk, Steglich, Christina, Guenther, Ulf P., Zerres, Klaus, Rudnik-Schöneborn, Sabine, Hübner, Christoph

Volltext

Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials von McDonald, Craig M, Signorovitch, James, Mercuri, Eugenio, Niks, Erik H, Wong, Brenda, Fillbrunn, Mirko, Sajeev, Gautam, Yim, Erica, Dieye, Ibrahima, Miller, Debra, Ward, Susan J, Goemans, Nathalie

Volltext

Ataluren treatment of patients with nonsense mutation dystrophinopathy von Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., O'donnell, Michael W., Peltz, Stuart W., Mcdonald, Craig M.

Volltext

Comparison of two corticosteroid regimens on brain volumetrics in patients with Duchenne muscular dystrophy von Geuens, Sam, Van Dessel, Jeroen, Govaarts, Rosanne, Ikelaar, Nadine A., Meijer, Onno C., Kan, Hermien E., Niks, Erik H., Goemans, Nathalie, Lemiere, Jurgen, Doorenweerd, Nathalie, De Waele, Liesbeth

Volltext

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study von Mcdonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine M., Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart

Volltext

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicente... von McDonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart W.

Volltext

Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

Volltext

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials von Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Lane, Henry, Jenkins, Madeline, Dieye, Ibrahima, Ward, Susan J., McDonald, Craig, Goemans, Nathalie, Niks, Erik H., Wong, Brenda, Servais, Laurent, Straub, Volker, Guglieri, Michela, de Groot, Imelda J.M., Chesshyre, Mary, Tian, Cuixia, Manzur, Adnan Y, Mercuri, Eugenio, Aartsma-Rus, Annemieke

Volltext

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial von Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J, Schwartz, Benjamin D, Harper, Amy D, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michelle L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard, McMillan, Hugh J, Kuntz, Nancy L, Rao, Vashmi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, de Groot, Imelda J.M, Katsalouli, Marina, James, Meredith K, van den Anker, Johannes, Damsker, Jesse M, Ahmet, Alexandra, Ward, Leanne M, Jaros, Mark, Shale, Phil, Dang, Utkarsh J, Hoffman, Eric P

Volltext

Meaningful changes in motor function in Duchenne muscular dystrophy von Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Done, Nicolae, Yao, Zhiwen, Goemans, Nathalie, McDonald, Craig, Mercuri, Eugenio, Niks, Erik H, Wong, Brenda, Vandenborne, Krista, Straub, Volker, de Groot, Imelda J. M, Tian, Cuixia, Manzur, Adnan, Dieye, Ibrahima, Lane, Henry, Ward, Susan J, Servais, Laurent

Volltext

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Ea... von Ferreiro, Ana, Quijano-Roy, Susana, Pichereau, Claire, Moghadaszadeh, Behzad, Goemans, Nathalie, Bönnemann, Carsten, Jungbluth, Heinz, Straub, Volker, Villanova, Marcello, Leroy, Jean-Paul, Romero, Norma B., Martin, Jean-Jacques, Muntoni, Francesco, Voit, Thomas, Estournet, Brigitte, Richard, Pascale, Fardeau, Michel, Guicheney, Pascale

Volltext

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 von Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

Volltext