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Project-related list of own publications

  1. Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings C, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner C. Mutations in GMPPA cause a novel glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.
  2. Koehler K, End K, Kind B, Landgraf D, Mitzscherling P, Huebner A. Changes in differential gene expression in fibroblast cells from patients with triple A syndrome under oxidative stress. Horm Metab Res. 2013;45:102-8.
  3. Dumic M, Barišic N, Kusec V, Stingl K, Skegro M, Stanimirovic A, Koehler K, Huebner A. Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr. 2012;171:1453-1459.
  4. Dumic M, Barisic N, Rojnik Putarek N, Kusec V, Stanimirovic A, Koehler K, Huebner A. Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr. 2011;170:393-396.