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

19.12.2018

Recently accepted paper

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ~ Cipriani S, Phan V, Médard Jean-Jacques, Horvath R, Lochmüller H, Chrast R, Roos A*, Spendiff S* ~ Int. J. Mol. Sci....   mehr

20.11.2018

Recently published paper

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human ~ Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH,...   mehr