Andreas Roos

26PUBLICATIONS
143CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - amino acids and metabolitesCancer geneticsGene expression (incl. microarray and other genome-wide approaches)Metabolic medicine
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Publications (26)

|Aug 27, 2026
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

|Jul 28, 2026
Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|Jan 23, 2026
Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.

Magdalena Mroczek, Corinna Preusse, Andreas Hentschel

|Jan 16, 2026
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.

Markus Leo, Linda-Isabell Schmitt, Kai Christine Liebig

|Jan 07, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel

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Frequent Collaborators

6 joint publications

Hanns Lochmüller

5 joint publications

Sally Spendiff

4 joint publications

Andreas Hentschel

3 joint publications

Tim Hagenacker