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="Friederich, Marisa W" or (type any "bookEditor issueEditor" and editor="Friederich, Maris... Add to list Conference Paper C3 New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders Kaz Knight, Marisa W Friederich, Rudy Van Coster (UGent) , Joél Smet (UGent) , Elise Vantroys, Michio Hirano, Amy Goldstein and Johan LK Van Hove (2018) MOLECULAR GENETICS AND METABOLISM. 123(3). p.202-202 Add to list Journal Article A1 open access Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder Curtis R, II Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger, Geralyn Creadon-Swindell, Abigail E Collins, Arnaud Vanlander (UGent) , Rudy Van Coster (UGent) , Christopher A Powell, et al. (2015) JOURNAL OF MEDICAL GENETICS. 52(8). p.532-540 Add to list Journal Article A1 A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms Carter D Wray, Marisa W Friederich, Desiree du Sart, Sarah Pantaleo, Joél Smet (UGent) , Cathlin Kucera, Laura Fenton, Gunter Scharer, Rudy Van Coster (UGent) and Johan LK Van Hove (2013) MITOCHONDRION. 13(6). p.656-661