Show 250 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Macchi, Laurent" or (type exact bookEditor and editor="Macchi, Laurent") Add to list Journal Article A1 Compound heterozygous mutations of the TNXB gene cause primary myopathy Isabelle Pénisson-Besnier, Valérie Allamand, Philippe Beurrier, Ludovic Martin, Joost Schalkwijk, Ivonne van Vlijmen-Willems, Corine Gartioux, Fransiska Malfait (UGent) , Delfien Syx (UGent) , Laurent Macchi, et al. (2013) NEUROMUSCULAR DISORDERS. 23(8). p.664-669