Anzahl der Publikationen: 2
2020
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
2017
Schoser, Benedikt; Fong, Edward; Geberhiwot, Tarekegn; Hughes, Derralynn; Kissel, John T.; Madathil, Shyam C.; Orlikowski, David; Polkey, Michael I.; Roberts, Mark; Tiddens, Harm A. W. M. und Young, Peter
(2017):
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.
In: Orphanet Journal of Rare Diseases
12:52
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