1. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: 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; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Issue 8 (23rd July 2020) Authors: Werning, Maike; Müllner, Ernst W.; Mlynek, Georg; Dobretzberger, Verena; Djinovic‐Carugo, Kristina; Baron, David M.; Prokisch, Holger; Büchner, Boriana; Klopstock, Thomas; Salzer, Ulrich Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 8(2020) Page Start: 1340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Issue 7 (July 2019) Authors: Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmieć, Tomasz; Büchner, Boriana; Steele, Hannah E; Horvath, Rita; Chinnery, Patrick F; Basu, Anna; Küpper, Clemens; Neuhofer, Christiane; Kálmán, Bernadette; Dušek, Petr; Yapici, Zuhal; Wilson, ... Journal: Lancet neurology Issue: Volume 18:Issue 7(2019) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia. Issue 7 (11th February 2014) Authors: Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Sacca, Francesco; Filla, Alessandro; Klockgether, Thomas; Klopstock, Thomas; Schöls, Ludger; Jacobi, Heike; Büchner, Boriana; vom Hagen, Jennifer Müller; Nanetti, Lorenzo; Manicom, Karen Journal: Movement disorders Issue: Volume 29:Issue 7(2014) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗