Andreas Roos (PhD)
Translational Research in Neuromuscular Disorders


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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Recently published paper

Severe neurodevelopmental disease caused by a homozygous TLK2 variant
Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.
Eur J Hum Genet. 2019 Sep 26. [doi: 10.1038/s41431-019-0519-x; PMID:31558842]. [Epub ahead of print]

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