Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

doi:10.1002/mds.29693

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Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2024

Thomsen Mirja, Marth Katrin, Loens Sebastian, Everding Judith, Junker Johanna, Borngräber Friederike, Ott Fabian, Jesús Silvia, Gelderblom Mathias, Odorfer Thorsten, Kuhlenbäumer Gregor, Kim Han-Joon, Schaeffer Eva, Becktepe Jos, Kasten Meike, Brüggemann Norbert, Pfister Robert, Kollewe Katja, Krauss Joachim K, Lohmann Ebba, Hinrichs Frauke, Berg Daniela, Jeon Beomseok, Busch Hauke, Altenmüller Eckart, Mir Pablo, Kamm Christoph, Volkmann Jens, Zittel Simone, Ferbert Andreas, Zeuner Kirsten E, Rolfs Arndt, Bauer Peter, Kühn Andrea A, Bäumer Tobias, Klein Christine, Lohmann Katja

Abstract excerpt

BACKGROUND: Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD). OBJECTIVES: To screen >2000 patients with...

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PMID: 38214203
DOI: 10.1002/mds.29693

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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