Andreas Roos (PhD)
Translational Research in Neuromuscular Disorders

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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03.05.2017

Recently published paper

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.
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Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H.
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Neurology Genetics. 2017 Jun; 3(3): e152.
Published online 2017 May 3. doi: 10.1212/NXG.0000000000000152.
PMCID: PMC5415388



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