PD Dr. rer. nat. Andreas Roos
Research Coordinator - Dep. of Neuropediatrics, University of Duisburg-Essen 🡵
Adjunct Professor - University of Ottawa 🡵
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GENOMIC AND PROTEOMIC SIGNATURES AS A GPS IN NEUROMUSCULAR DISEASES
Welcome dear visitor
As senior scientist 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.
I'd like to invite you to discover my field activity and related projects.
Best regards
Andreas Roos
News |  |
18.04.2022
Recently accepted paper
SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells Molecular Metabolism ~ mehr
20.10.2021
Recently published paper
1 H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy. Orphan Journal of Rare Diseases ~ Saffari A, Cannet C, Blaschek... mehr
01.10.2021
Recently accepted paper
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphan Journal of Rare Diseases ~ Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo... mehr
01.10.2021
Recently published paper
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathology and Applied Neurobiology ~ Kölbel H, Preusse C, Brand L, van Moers A, Della marina A,... mehr
01.10.2021
Recently accepted paper
Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen. Der Nervenarzt ~ Gangfuss A, Schara-Schmidt U, Roos A mehr
29.09.2021
Recently published paper
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). European Journal of Human Genetics. ~ Töpf A, Pyle A, Griffin H,... mehr
04.09.2021
Recently published paper
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. ~ Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J,... mehr
24.08.2021
Recently published paper
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. American Journal of Medical Genetics Part... mehr
24.08.2021
Recently published paper
Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy. Children ~ Della Marina A, Pawlitzki M, Ruck T, Van Baalen... mehr
23.07.2021
Recently published paper
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Mol Genet Genomic Med. ~ Braun F, Gangfuß A, Stöbe P, Haack TB,... mehr
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