Show 10 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 exact 002001372607 cql: author exact 001987144626 Add to list Conference Paper C3 The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy Arnaud Vanlander (UGent) , Helene Verhelst (UGent) , Elise Vantroys, Joél Smet (UGent) , Boel De Paepe (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent) (2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S156-S156 Add to list Journal Article A1 Nusinersen versus sham control in infantile-onset spinal muscular atrophy RS Finkel, E Mercuri, BT Darras, AM Connelly, NL Kuntz, J Kirschner, CA Chiriboga, K Saito, L Servais, E Tizzano, et al. (2017) NEW ENGLAND JOURNAL OF MEDICINE. 377(18). p.1723-1732 Add to list Conference Paper C3 RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome FILOMEEN HAERYNCK (UGent) , Patrick Verloo (UGent) , Delfien Bogaert (UGent) , Joél Smet (UGent) , Arnaud Vanlander (UGent) , Maria Bordon Cueto De Braem (UGent) , Helene Verhelst (UGent) , Rudy Van Coster (UGent) , Björn Menten (UGent) and Melissa Dullaers (UGent) (2016) European Society for Immunodeficiencies, 17th Biennial meeting, Abstracts. Add to list Conference Paper C3 MECHANISM OF LACTIC ACIDOSIS IN PATIENTS WITH THE PROPOFOL INFUSION SYNDROME (PRIS) Rudy Van Coster (UGent) , Arnaud Vanlander (UGent) , Joél Smet (UGent) , Helene Verhelst (UGent) , Patrick Verloo (UGent) and Annik de Jaeger (UGent) (2009) MOLECULAR GENETICS AND METABOLISM. 98(1-2).