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

Saved in:
Bibliographic Details
Title: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Authors: Thomsen M; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Ott F; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Loens S; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Kilic-Berkmen G; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA., Tan AH; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Lim SY; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Lohmann E; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, 72076 Tübingen, Germany., Schröder KM; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Ipsen L; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Nothacker LA; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Welzel L; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Rudnik AS; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Hinrichs F; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Odorfer T; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Schumann F; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Kühn AA; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Moeller M; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Pfister R; Neurological Practice, 86356 Neusäß, Germany., Kamm C; Department of Neurology, University Medical Center Rostock, 18057 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, ON M5T 2S8, Canada., Tay YW; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Vidailhet M; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, 75013 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, 75013 Paris, France., Perlmutter JS; Departments of Neurology, Radiology and Neuroscience, Washington University, St. Louis, MO 63110, USA., Feuerstein JS; Department of Neurology, University of Colorado, Aurora, CO 80045, USA., Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia., Chang F; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia., Barbano RL; Department of Neurology, University of Rochester, Rochester, NY 14627, US., Bellows S; Baylor College of Medicine, Department of Neurology, Houston, TX 77030, US., Shukla AAW; Department of Neurology, University of Florida, Gainesville, FL 32611, USA., Espay AJ; James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH 45219, USA., LeDoux MS; Department of Psychology, University of Memphis, Memphis, TN 38152, USA AND Veracity Neuroscience LLC, Memphis, TN 38157, USA., Berman BD; Department of Neurology, Virginia Commonwealth University, Richmond, VA 23298, USA., Reich S; Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Deik A; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Wittig M; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Franzenburg S; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, 23538 Lübeck, Germany., Jinnah HA; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA., Bäumer T; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Busch H; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 05. Date of Electronic Publication: 2024 Dec 05.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.1101/2024.12.02.24316741