Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

This study provides valuable insights into the genetic landscape of dystonia, underscores the utility of exome sequencing for diagnosis, substantiates several candidate genes, and expands the phenotypic spectrum of some genes to include prominent, sometimes isolated dystonia.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2025-06-18
DOI
https://doi.org/10.1002/acn3.70100
Citations
7
Primary Topic
Neurological disorders and treatments
Type
article
Field-Weighted Citation Impact
9.72

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article

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Fabian Ott, Anthony E. Lang, Ebba Lohmann, Andrea A. Kühn et al.
7 citations
Annals of Clinical and Translational Neurology
Neurological disorders and treatments
9.72
article

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Fabian Ott, Anthony E. Lang, Ebba Lohmann, Andrea A. Kühn, Victor S.C. Fung, Marie Vidailhet, Simone Zittel, Katrin Schröder, Christine Klein, Jens Volkmann, Florence Chang, Joel S. Perlmutter, Mirja Thomsen, Brian D. Berman, Jeanne Feuerstein, Alberto J. Espay, Robert M. Pfister, Friederike Schumann, Frauke Hinrichs, Shen‐Yang Lim, Andres Deik, H. A. Jinnah, Yi Wen Tay, Ai Huey Tan, Sören Franzenburg, Tobias Bäumer, Sebastian Loens, Steven Bellows, Norbert Brüggemann, Thorsten Odorfer, Marius E. Moeller, Aparna Wagle Shukla, Richard L. Barbano, Gamze Kilic‐Berkmen, Christoph Kamm, Hauke Busch, Mark S. LeDoux, Ana Luísa de Almeida Marcelino, Andre Franke, Katja Lohmann, Stephen G. Reich, Michael Wittig, Kirsten E. Zeuner, Emmanuel Roze, Agata Rudnik, Lena A. Nothacker, Linn Welzel, Lea Ipsen
article en
7 citations

Abstract

This study provides valuable insights into the genetic landscape of dystonia, underscores the utility of exome sequencing for diagnosis, substantiates several candidate genes, and expands the phenotypic spectrum of some genes to include prominent, sometimes isolated dystonia.

Annals of Clinical and Translational NeurologyVol. 12(8)
University of Maryland, Baltimore (US), Centre National de la Recherche Scientifique (FR), The University of Sydney (AU), Emory University (US), Inserm (FR), Universität Hamburg (DE), Baylor College of Medicine (US), Virginia Commonwealth University (US), University of Toronto (CA), Washington University in St. Louis (US), Toronto Western Hospital (CA), German Center for Neurodegenerative Diseases (DE), Westmead Hospital (AU), Christian-Albrechts-Universität zu Kiel (DE), University of Florida (US), University of Malaya (MY), Sorbonne Université (FR), University Medical Center Hamburg-Eppendorf (DE), University Hospital Schleswig-Holstein (DE), Pitié-Salpêtrière Hospital (FR), Universitätsklinikum Würzburg (DE), Hertie Institute for Clinical Brain Research (DE), Institut du Cerveau (FR), University of Rostock (DE), University of Colorado Anschutz Medical Campus (US), University of Rochester (US), University of Cincinnati (US), Charité - Universitätsmedizin Berlin (DE), University of Pennsylvania (US), University of Tübingen (DE), University of Colorado Denver (US), University of Lübeck (DE), University of Memphis (US)
Deutsche Forschungsgemeinschaft, Universiti Malaya, National Institutes of Health, Dystonia Coalition
Openalex Percentile: Top 2%
Neurological disorders and treatments
9.72
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