Benutzerspezifische Werkzeuge

Selected publications

  • Huebner A, Mann P, Rhode E, Kaindl AM, Witt M, Verkade P, Jakubicka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol. 2006;26:1879-87.
  • Vorgerd M, van der Ven PFM, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal-dominant myofibrillar myopathy. Am J Hum Genet. 2005;77:297-304.
  • Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJL. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005;37:166-70.
  • Koehler K, Brockmann K, Krumbholz M, Kind B, Bonnemann, C, Gärtner J, Huebner A. Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet. 2008;16:1499-1506.
  • Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A. Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med. 2010;88:1233-42.


Pubmed Search
: Huebner A