As a biologist by training I am working in the field of translational medicine with a main focus on neurodegenerative and neuromuscular disorders.
In order to understand the etiology of these diseases and to obtain a full picture, my work focusses on the identification of the genetic cause as well as on the discovery of the related pathophysiological consequences. For the latter purpose, various biochemical techniques including different proteomic approaches are applied by making use of in vitro and in vivo models as well as of patient-derived material.
Manuscript accepted for publication in Proteomics Clinical Applications
The ambiguous Caveolin-3 G56S sequence variant: Muscle biopsy findings and functional cell biological analysis ~ Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M,... mehr
Recently published paper
Optimization of Internally Deleted Dystrophin Constructs ~ Reza M, Laval SH, Roos A, Carr S, Lochmüller H. +++ Hum Gene Ther Methods. 2016 Jul 31. [Epub ahead of print] doi: 10.1089/hgtb.2016.026. Epub... mehr