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

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Title: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Authors: Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Ott F; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Loens S; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Kilic-Berkmen G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Tan AH; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lim SY; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lohmann E; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schröder KM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Ipsen L; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Nothacker LA; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Welzel L; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Rudnik AS; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Hinrichs F; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Odorfer T; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Schumann F; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Kühn AA; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Moeller M; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Pfister R; Neurological Practice, Neusäß, Germany., Kamm C; Department of Neurology, University Medical Center Rostock, Rostock, Germany., Lang AE; Edmond J. Safra Program in Parkinson's Disease, the Rossy PSP Centre and Department of Medicine (Neurology), Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada., Tay YW; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., de Almeida Marcelino AL; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Vidailhet M; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Roze E; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Perlmutter JS; Departments of Neurology, Radiology and Neuroscience, Washington University, St. Louis, Missouri, USA., Feuerstein JS; Department of Neurology, University of Colorado, Aurora, Colorado, USA., Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Chang F; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Barbano RL; Department of Neurology, University of Rochester, Rochester, New York, USA., Bellows S; Baylor College of Medicine, Department of Neurology, Houston, Texas, USA., Wagle Shukla AA; Department of Neurology, University of Florida, Gainesville, Florida, USA., Espay AJ; James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA., LeDoux MS; Department of Psychology, University of Memphis, Veracity Neuroscience LLC, Memphis, Tennessee, USA., Berman BD; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA., Reich S; Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA., Deik A; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Wittig M; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Franzenburg S; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany., Jinnah HA; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Bäumer T; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Busch H; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2025 Aug; Vol. 12 (8), pp. 1648-1659. Date of Electronic Publication: 2025 Jun 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Thomsen+M%22">Thomsen M</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Ott+F%22">Ott F</searchLink>; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Loens+S%22">Loens S</searchLink>; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kilic-Berkmen+G%22">Kilic-Berkmen G</searchLink>; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Tan+AH%22">Tan AH</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lim+SY%22">Lim SY</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lohmann+E%22">Lohmann E</searchLink>; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schröder+KM%22">Schröder KM</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Ipsen+L%22">Ipsen L</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Nothacker+LA%22">Nothacker LA</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Welzel+L%22">Welzel L</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Rudnik+AS%22">Rudnik AS</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hinrichs+F%22">Hinrichs F</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Odorfer+T%22">Odorfer T</searchLink>; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zeuner+KE%22">Zeuner KE</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Schumann+F%22">Schumann F</searchLink>; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Kühn+AA%22">Kühn AA</searchLink>; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Zittel+S%22">Zittel S</searchLink>; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Moeller+M%22">Moeller M</searchLink>; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Pfister+R%22">Pfister R</searchLink>; Neurological Practice, Neusäß, Germany.<br /><searchLink fieldCode="AU" term="%22Kamm+C%22">Kamm C</searchLink>; Department of Neurology, University Medical Center Rostock, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Lang+AE%22">Lang AE</searchLink>; Edmond J. Safra Program in Parkinson's Disease, the Rossy PSP Centre and Department of Medicine (Neurology), Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Tay+YW%22">Tay YW</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22de+Almeida+Marcelino+AL%22">de Almeida Marcelino AL</searchLink>; Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Vidailhet+M%22">Vidailhet M</searchLink>; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Roze+E%22">Roze E</searchLink>; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Perlmutter+JS%22">Perlmutter JS</searchLink>; 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Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Wittig+M%22">Wittig M</searchLink>; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Franzenburg+S%22">Franzenburg S</searchLink>; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Volkmann+J%22">Volkmann J</searchLink>; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Brüggemann+N%22">Brüggemann N</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Jinnah+HA%22">Jinnah HA</searchLink>; 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