PD Andreas  Roos (PhD)
Translational Research in Neuromuscular Disorders

PD Dr. rer. nat. Andreas Roos

Research Coordinator - Dep. of Neuropediatrics, University of Duisburg-Essen 🡵

Adjunct Professor - University of Ottawa 🡵

Project Manager - NMD-GPS 🡵

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

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13.10.2021

Recently accepted 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


22.07.2021

Recently published paper

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS . International Journal of Molecular Science ~ Braun F*, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster...   mehr


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