Mirja Thomsen

4PUBLICATIONS
18CO-AUTHORS
Paediatrics not elsewhere classifiedNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (4)

|Jul 18, 2026
Beyond Ocular Malformations: RARB Variants Presenting as Isolated Pediatric Movement Disorder.

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

Gülsüm Kayhan, Ryosuke Tany, Reza Maroofian

|Jun 19, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Mirja Thomsen, Fabian Ott, Sebastian Loens

|May 16, 2025
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

Joshua Laß, Mirja Thomsen, Max Borsche

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Frequent Collaborators

2 joint publications

Katja Lohmann

1 joint publications

Emil K Gustavsson

1 joint publications

Ana Westenberger

1 joint publications

Christopher E Pearson