Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

by Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Published 2016

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

by Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Published 2015