Show 5 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 801001127782 or (type any "bookEditor issueEditor" and editor exact 801001127782) cql: keyword exact "defect" Add to list Journal Article A1 Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q Arnaud Vanlander (UGent) , Juergen Guenther Okun, Annik de Jaeger (UGent) , Joél Smet (UGent) , Elien De Latter (UGent) , Boel De Paepe (UGent) , Georges Dacremont, Brigitte Wuyts (UGent) , Bert Vanheel (UGent) , Peter De Paepe (UGent) , et al. (2015) ANESTHESIOLOGY. 122(2). p.343-352 Add to list Journal Article A1 Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy Nikhita Ajit Bolar, Arnaud Vanlander (UGent) , Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter (UGent) , et al. (2013) HUMAN MOLECULAR GENETICS. 22(13). p.2590-2602 Add to list Journal Article A1 Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA Joél Smet (UGent) , Sara Seneca, Boel De Paepe (UGent) , Ann Meulemans, Helene Verhelst (UGent) , Juliaan Leroy (UGent) , Linda De Meirleir, Willy Lissens and Rudy Van Coster (UGent) (2009) ELECTROPHORESIS. 30(20). p.3565-3572 Add to list Journal Article A1 A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis Ann Meulemans, Sara Seneca, Joél Smet (UGent) , Boel De Paepe (UGent) , Willy Lissens, Rudy Van Coster (UGent) , Anne Debeer, Linda De Meirleir and Jaak Jaeken (2007) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 11(1). p.17-20 Add to list Journal Article A1 A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure Ann Meulemans, Sara Seneca, Lieven Lagae, Willy Lissens, Boel De Paepe (UGent) , Joél Smet (UGent) , Rudy Van Coster (UGent) and Linda De Meirleir (2006) ARCHIVES OF NEUROLOGY. 63(8). p.1194-1198