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Annual Review of Pathology|September 22, 2023
Genetics and Pathogenesis of DystoniaMirja Thomsen, Lara M Lange, Michael Zech, et al.
Microbiome|October 20, 2023
A comprehensive analysis of gut and skin microbiota in canine atopic dermatitis in Shiba Inu dogsMirja Thomsen, Axel Künstner, Inken Wohlers, et al.
Movement Disorders Clinical Practice|March 15, 2024
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar AtaxiaAndona Milovanović, Nataša Dragaševic-Mišković, Mirja Thomsen, et al.
Brain : a Journal of Neurology|May 16, 2025
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?Joshua Laß, Mirja Thomsen, Max Borsche, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2022
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year StudyAngela Rosenbohm, Hendrik Pott, Mirja Thomsen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionPhilip Harrer, Matej Škorvánek, Volker Kittke, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
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