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.

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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
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article

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

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Annals of Neurology
Botulinum Toxin and Related Neurological Disorders
39.15
article

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Felix Brechtmann, Melanie Brügger, Petra Havránková, Diana Ballhausen, Magdalena Krygier, Florian R. Hölzlwimmer, Miriam Kolníková, Philip Harrer, Maria Mazurkiewicz‐Bełdzińska, Timo Roser, H. Prokisch, Alexandra Sitzberger, Katarína Kušíková, Ján Necpál, Ivana Dzinovic, Ugo Sorrentino, Robert Kopajtich, S. M. Boesch, Matěj Škorvánek, 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
article en
1 citations

Abstract

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.

Annals of Neurology
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)
Openalex Percentile: Top 1%
Botulinum Toxin and Related Neurological Disorders
39.15
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