Juliane Winkelmann

17PUBLICATIONS
144CO-AUTHORS
NanomanufacturingNeurology and neuromuscular diseasesComparative language studiesGene mappingGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (17)

|Sep 08, 2026
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Aug 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

|Jul 08, 2026
Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.

|Sep 26, 2025
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Martin Krenn, Matias Wagner, Helena Schuller

|Aug 20, 2025
De novo protein-coding gene variants in developmental stuttering.

Else Eising, Ivana Dzinovic, Arianna Vino

|Jul 30, 2025
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression.

Luisa Foco, Marzia De Bortoli, Fabiola Del Greco M

Pageof 3

Frequent Collaborators

5 joint publications

Matias Wagner

5 joint publications

Michael Zech

4 joint publications

Theresa Brunet

4 joint publications

Elisabeth Graf