Hahn, Dagmar Karen

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Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y

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

Lämmle, Alexander; Hahn, Dagmar Karen; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular genetics and metabolism, 114(3), pp. 438-444. Elsevier 10.1016/j.ymgme.2015.01.002

Jackson, Christopher; Neuwirth, Christoph; Hahn, Dagmar Karen; Nuoffer, Jean-Marc; Frank, Stephan; Gallati, Sabina; Schaller, André (2014). Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. British journal of ophthalmology, 98(10), pp. 1453-1459. BMJ Publishing Group 10.1136/bjophthalmol-2014-305300

Schild, Christof; Hahn, Dagmar Karen; Schaller, André; Jackson, Christopher; Rothen-Rutishauser, Barbara; Mirkovitch, Jelena; Nuoffer, Jean-Marc (2014). Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. Amino acids, 46(7), pp. 1775-1783. Springer 10.1007/s00726-014-1730-2

Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956

Martin, Juliette; Maurhofer, Olivier; Bellance, Nadège; Benard, Giovanni; Graber, Franziska; Hahn, Dagmar Karen; Galinier, Anne; Hora, Caroline; Gupta, Anirudh; Ferrand, Gisèle; Hoppeler, Hans; Rossignol, Rodrigue; Dufour, Jean-François; St-Pierre, Marie V (2012). Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function. Hepatology, 57(5), pp. 2037-2048. Hoboken, N.J.: Wiley Interscience 10.1002/hep.26060

Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; Chardot, Christophe; Belli, Dominique C; Gallati, Sabina; Nuoffer, Jean-Marc (2011). Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC neurology, 11, p. 4. London: BioMed Central 10.1186/1471-2377-11-4

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