Welcome
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.
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20.06.2017
Recently published paper
Mass-Spectrometry based protein analytics to unravel the tissue pathophysiology in Duchenne Muscular Dystrophy. ~ Carr SJ, Zahedi RP, Lochmüller H, Roos A. ~ Proteomics Clinical Applications. 2017 Jun 20.... mehr
16.06.2017
Recently published paper
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins. ~ Dreser A, Vollrath JT, Sechi A, Johann S, Roos A,... mehr
03.05.2017
Recently published paper
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. ~ Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller... mehr