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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08.05.2018
Published Paper in Brain
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis. ~ Ladislau L, Suárez-Calvet X, Toquet S, Amelin D, Landon-Cardinal O, Depp M, Rodero M, Hathazi D, Duffy D,... mehr
02.05.2018
Published Paper in Neurology
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. ~ Bansagi B, Phan V, O'Sullivan J, Mueller J, Duff J, Miller J, Gorman G, Roos A*, Swan L*, Horvath... mehr
16.02.2018
Published Paper in Human Molecular Genetics
MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion. ~ O´Connor E, Phan V, Cordts I, Cairns J, Lochmüller H, Roos A. ~ Hum Mol Genet. 2018 May 1;27(9):1556-1564. Epub... mehr