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.
News |  |
26.09.2019
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,... mehr
07.08.2019
Recently published paper
Modulation of Agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish ~ O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R,... mehr
24.07.2019
Recently published paper
Clinical presentation and proteomic signature of patients with TANGO2 mutations ~ Mingirulli N*, Pyle A*, Hathazi D, Charlotte L. A, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C,... mehr