Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

20261 citationsJournal Articlehybrid Open Access

Authors

Alice Saparov · Helmholtz Association of German Research Centres

Ivana Dzinovic · Helmholtz Zentrum München

Theresa Brunet · Technical University of Munich

Vicente A. Yépez · Urologische Klinik München

Florian R. Hölzlwimmer · Technical University of Munich

Elisabetta Indelicato · Innsbruck Medical University

Birgit Assmann

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.

Topics & Keywords

Botulinum Toxin and Related Neurological Disorders Neurological disorders and treatments Genetic Neurodegenerative Diseases

Publication Details

Published in: Annals of Neurology

DOI: 10.1002/ana.78171

Field-Weighted Citation Impact: 38.07

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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Authors

Abstract

Topics & Keywords

Publication Details