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.



Zurück zur Übersicht


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, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García‐Cazorla A, Gross C, O'Callaghan M, Santra S, Maryanne A. P, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez‐Mallebrera C, Robert W. T, Artuch R, Kirschner J, Sarah C. G, Roos A*, Horvath R
J Inherit Metab Dis. 2019 Jul 24 [doi: 10.1002/jimd.12156; PMID: 31339582]

Zurück zur Übersicht