Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Fibroblast-based RNA-seq in our selected cohort improved variant interpretation and offered a modest yield in patients without prior candidate variants. ANN NEUROL 2026.
Authors
- Felix Brechtmann (ORCID: https://orcid.org/0000-0002-0110-152X)
- Melanie Brügger (ORCID: https://orcid.org/0000-0002-6920-8550)
- Petra Havránková (ORCID: https://orcid.org/0000-0002-7731-5129)
- Diana Ballhausen (ORCID: https://orcid.org/0000-0003-2940-3439)
- Magdalena Krygier (ORCID: https://orcid.org/0000-0002-6607-5983)
- Florian R. Hölzlwimmer (ORCID: https://orcid.org/0000-0002-5522-2562)
- Miriam Kolníková (ORCID: https://orcid.org/0000-0002-9211-4456)
- Philip Harrer
- Maria Mazurkiewicz‐Bełdzińska (ORCID: https://orcid.org/0000-0002-9405-5066)
- Timo Roser
- H. Prokisch
- Alexandra Sitzberger
- Katarína Kušíková (ORCID: https://orcid.org/0000-0001-9076-313X)
- Ján Necpál (ORCID: https://orcid.org/0000-0002-4626-9588)
- Ivana Dzinovic
- Ugo Sorrentino (ORCID: https://orcid.org/0000-0001-8139-6198)
- Robert Kopajtich (ORCID: https://orcid.org/0000-0002-9119-3455)
- S. M. Boesch
- Matěj Škorvánek (ORCID: https://orcid.org/0000-0001-5497-8715)
- Anne Koy
- Susann Badmann
- Lukáš Kunc
- Alice Saparov
- Steffen Berweck
- Ava Oberlack
- Vicente A. Yépez
- Michael Zech
- Christian Mertes
- Denisa Harvanova
- Elisabetta Indelicato
- Robert Jech
- Oliver Maier
- Theresa Brunet
- Felix Distelmaier
- Birgit Assmann
- Juliane Winkelmann
- Kevork Derderian
- Antonia M. Stehr
- Matias Wagner
- Elisabeth Graf
- Katharina Vill
- Ann‐Kathrin Jaroszynski
Institutions
- Helmholtz Association of German Research Centres (DE)
- Innsbruck Medical University (AT)
- University of Cologne (DE)
- Universität Innsbruck (AT)
- University of Pavol Jozef Šafárik (SK)
- Charles University (CZ)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Helmholtz Zentrum München (DE)
- LMU Klinikum (DE)
- Düsseldorf University Hospital (DE)
- University Hospital Bratislava (SK)
- Technická univerzita vo Zvolene (SK)
- Univerzitná Nemocnica Louisa Pasteura (SK)
- Munich Cluster for Systems Neurology (DE)
- Institute for Advanced Study (DE)
- Medizinische Zentrum für Gesundheit (DE)
- University Hospital Cologne (DE)
- General University Hospital in Prague (CZ)
- Urologische Klinik München (DE)
- Ostschweizer Kinderspital (CH)
- Heinrich Heine University Düsseldorf (DE)
- Technical University of Munich (DE)
- Comenius University Bratislava (SK)
- Gdańsk Medical University (PL)
- Ludwig-Maximilians-Universität München (DE)
- Heidelberg University (US)
- University of Lausanne (CH)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2026-02-02
- DOI
- https://doi.org/10.1002/ana.78171
- Citations
- 1
- Primary Topic
- Botulinum Toxin and Related Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 39.15