Katja Lohmann

67PUBLICATIONS
316CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mappingDevelopmental genetics (incl. sex determination)Gene and molecular therapy
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Publications (67)

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

|Jul 15, 2026
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.

|Apr 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies.

Gülsüm Kayhan, Ryosuke Tany, Reza Maroofian

|Jan 02, 2026
How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson's disease.

Alexander Balck, Eva-Juliane Vollstedt, Ana Westenberger

|Nov 29, 2025
'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy.

Connie Marras, Alberto Albanese, Mark Hallett

|Nov 07, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Ana Westenberger, Edgard Verdura, Mandy Radefeldt

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Frequent Collaborators

12 joint publications

Norbert Brüggemann

12 joint publications

Christine Klein

10 joint publications

Martje Pauly

7 joint publications

Max Borsche