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Zeitschriftenartikel
Attarian, Shahram; Young, Peter; Brannagan, Thomas H.; Adams, David; Damme, Philip van; Thomas, Florian P.; Casanovas, Carlos; Tard, Celine; Walter, Maggie C.; Pereon, Yann; Walk, David; Stino, Amro; Visser, Marianne de; Verhamme, Camiel; Amato, Anthony; Carter, Gregory; Magy, Laurent; Statland, Jeffrey M. und Felice, Kevin
(2021):
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 433
Villar-Quiles, Rocio N.; Hagen, Maja von der; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; Visser, Marianne de; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; Kooi, Anneke van der; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike und Ferreiro, Ana
(2020):
The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series.
In: Neurology, Bd. 95, Nr. 11, E1512-E1527