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

Autor: Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 05. Date of Electronic Publication: 2024 Dec 05.

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

Autor: Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Marth K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Rostock, Rostock, Germany., Loens S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany., Everding J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Junker J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany., Borngräber F; Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Ott F; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Jesús S; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain., Gelderblom M; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Odorfer T; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Kuhlenbäumer G; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Kim HJ; Department of Neurology, Seoul National University Hospital, Seoul, South Korea., Schaeffer E; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Becktepe J; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Kasten M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Psychiatry, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany., Pfister R; Neurological Practice, Neusäß, Germany., Kollewe K; Department of Neurology, Hannover Medical School, Hannover, Germany., Krauss JK; Department of Neurosurgery, Hannover Medical School, Hannover, Germany., Lohmann E; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany., Hinrichs F; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Berg D; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Jeon B; Department of Neurology, Seoul National University Hospital, Seoul, South Korea., Busch H; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Altenmüller E; Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, Hanover, Germany., Mir P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain., Kamm C; Department of Neurology, University Hospital Rostock, Rostock, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ferbert A; Department of Neurology, Klinikum Kassel, Kassel, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Rolfs A; Medical Faculty, University of Rostock, Rostock, Germany.; Agyany Pharmaceuticals, Jerusalem, Israel., Bauer P; Centogene AG, Rostock, Germany., Kühn AA; Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bäumer T; Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.; Center of Rare Diseases, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Mar; Vol. 39 (3), pp. 526-538. Date of Electronic Publication: 2024 Jan 12.

The rhythm of mental rotation: Enhancing performance with TMS at theta frequency

Autor: Hiew, S., Odorfer, T., Volkmann, J., Reich, M.M., Zeller, D.

Publikováno v: In Clinical Neurophysiology March 2024 159:e29-e29

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A Multi-center Genome-wide Association Study of Cervical Dystonia.

Autor: Sun YV; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.; Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, Georgia, USA., Li C; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA., Hui Q; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA., Huang Y; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA., Barbano R; Movement Disorders Division, University of Rochester, Rochester, New York, USA., Rodriguez R; Neurology One, Orlando, Florida, USA., Malaty IA; Department of Neurology, Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA., Reich S; Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA., Bambarger K; Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA., Holmes K; Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA., Jankovic J; Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA., Patel NJ; Department of Neurology, Henry Ford Health System, Henry Ford Hospital, Detroit, Michigan, USA., Roze E; Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle; Assistance Publique - Hôpitaux de Paris, Hôpital Salpêtrière, Département de Neurologie, Paris, France., Vidailhet M; Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle; Assistance Publique - Hôpitaux de Paris, Hôpital Salpêtrière, Département de Neurologie, Paris, France., Berman BD; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA., LeDoux MS; Department of Psychology, University of Memphis, Memphis, Tennessee, USA., Espay AJ; James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati Academic Health Center, Cincinnati, Ohio, USA., Agarwal P; Booth Gardner Parkinson's Care Center, Evergreen Health, Kirkland, Washington, USA., Pirio-Richardson S; Department of Neurology, University of New Mexico, Albuquerque, New Mexico, USA., Frank SA; Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Ondo WG; Department of Neurology, Methodist Neurological Institute, Weill Cornell Medical School, Houston, Texas, USA., Saunders-Pullman R; Icahn School of Medicine at Mount Sinai, Movement Disorders, Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA., Chouinard S; Unité des troubles du mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, Canada., Natividad S; Department of Neurology, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Berardelli A; Department of Neurology and Psychiatry, Sapienza University of Rome and IRCCS Neuromed, Rome, Italy., Pantelyat AY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Brashear A; Neurology, University of California, Davis, Sacramento, California, USA., Fox SH; University of Toronto, Edmond J Safra Program in Parkinson Disease; Movement Disorder Clinic, Toronto Western Hospital, Toronto, Ontario, Canada., Kasten M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany., Krämer UM; Department of Neurology, University of Lübeck, Lübeck, Germany., Neis M; Department of Neurology, University of Lübeck, Lübeck, Germany.; Institute for Health Sciences, Department of Midwifery Science, University of Lübeck, Lübeck, Germany., Bäumer T; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Institute of Systemic Motor Research, University of Lübeck, Lübeck, Germany., Loens S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Institute of Systemic Motor Research, University of Lübeck, Lübeck, Germany., Borsche M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Maurer A; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Gelderblom M; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Odorfer T; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Kühn AA; Department of Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany., Borngräber F; Department of Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany., König IR; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany., Cruchaga C; Department of Psychiatry, Washington University in St. Louis, St. Louis, Missouri, USA., Cotton AC; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Kilic-Berkmen G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Freeman A; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Factor SA; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Scorr L; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Bremner JD; Atlanta VA Medical Center, Decatur, Georgia, USA.; Departments of Psychiatry & Behavioral Sciences and Radiology, Emory University School of Medicine, Atlanta, Georgia, USA., Vaccarino V; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA., Quyyumi AA; Department of Medicine, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia, USA., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Perlmutter JS; Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University in St. Louis, St. Louis, Missouri, USA., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Jinnah HA; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Dec; Vol. 36 (12), pp. 2795-2801. Date of Electronic Publication: 2021 Jul 28.