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Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696
Illsinger, Sabine; Korenke, G Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A; Scholl-Bürgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kölker, Stefan; Prokisch, Holger; Haack, Tobias B (2020). Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European journal of medical genetics, 63(11), p. 104046. Elsevier 10.1016/j.ejmg.2020.104046
Haack, Tobias B; Jackson, Christopher; 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, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189
