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Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.

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Title: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Authors: Wang H; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Chang TS; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Dombroski BA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cheng PL; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Patil V; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Valiente-Banuet L; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Farrell K; Department of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain, Institute, Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mclean C; Victorian Brain Bank, The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia., Molina-Porcel L; Alzheimer's Disease and Other Cognitive Disorders Unit. Neurology Service, Hospital Clínic, Fundació Recerca Clínic Barcelona (FRCB). Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.; Neurological Tissue Bank of the Biobanc-Hospital Clínic-IDIBAPS, Barcelona, Spain., Rajput A; Movement Disorders Program, Division of Neurology, University of Saskatchewan, Saskatoon, SK, Canada., De Deyn PP; Laboratory of Neurochemistry and Behavior, Experimental Neurobiology Unit, University of Antwerp, Wilrijk (Antwerp), Belgium.; Department of Neurology, University Medical Center Groningen, NL-9713 AV, Groningen, Netherlands., Le Bastard N; Fujirebio Europe NV, Technologiepark 6, 9052, Ghent, Belgium., Gearing M; Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Kaat LD; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands., Van Swieten JC; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands., Dopper E; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands., Ghetti BF; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Newell KL; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Troakes C; London Neurodegenerative Diseases Brain Bank, King's College London, London, UK., de Yébenes JG; Autonomous University of Madrid, Madrid, Spain., Rábano-Gutierrez A; Fundación CIEN (Centro de Investigación de Enfermedades Neurológicas) - Centro Alzheimer Fundación Reina Sofía, Madrid, Spain., Meller T; Department of Neurology, Philipps-Universität, Marburg, Germany., Oertel WH; Department of Neurology, Philipps-Universität, Marburg, Germany., Respondek G; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany., Stamelou M; Parkinson's Disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece.; European University of Cyprus, Nicosia, Cyprus., Arzberger T; Department of Psychiatry and Psychotherapy, University Hospital Munich, Ludwig-Maximilians-University Munich, Munich, Germany.; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany., Roeber S; German Brain Bank, Neurobiobank Munich, Munich, Germany., Müller U; German Brain Bank, Neurobiobank Munich, Munich, Germany., Hopfner F; Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Pastor P; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias I Pujol, Badalona, Barcelona, Spain.; Neurosciences, The Germans Trias I Pujol Research Institute (IGTP) Badalona, Badalona, Spain., Brice A; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France., Le Ber I; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France., Beach TG; Banner Sun Health Research Institute, Sun City, AZ, USA., Serrano GE; Banner Sun Health Research Institute, Sun City, AZ, USA., Hazrati LN; University McGill, Montreal, QC, Canada., Litvan I; Department of Neuroscience, University of California, San Diego, CA, USA., Rademakers R; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA., Ross OA; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA., Galasko D; Department of Neuroscience, University of California, San Diego, CA, USA., Boxer AL; Memory and Aging Center, University of California, San Francisco, CA, USA., Miller BL; Memory and Aging Center, University of California, San Francisco, CA, USA., Seeley WW; Memory and Aging Center, University of California, San Francisco, CA, USA., Van Deerlin VM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Lee EB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., White CL 3rd; University of Texas Southwestern Medical Center, Dallas, TX, USA., Morris H; Departmento of Clinical and Movement Neuroscience, University College of London, London, UK., de Silva R; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK., Crary JF; Department of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain, Institute, Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Goate AM; Department of Genetics and Genomic Sciences, New York, NY, USA; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Friedman JS; Friedman Bioventure, Inc., Del Mar, CA, USA., Leung YY; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Coppola G; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA., Naj AC; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wang LS; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Dalgard C; Department of Anatomy Physiology and Genetics, the American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Dickson DW; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA. Dickson.Dennis@mayo.edu., Höglinger GU; Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. guenter.hoeglinger@med.uni-muenchen.de., Schellenberg GD; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. gerardsc@pennmedicine.upenn.edu.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. gerardsc@pennmedicine.upenn.edu., Geschwind DH; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. dhg@mednet.ucla.edu.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. dhg@mednet.ucla.edu.; Institute of Precision Health, University of California, Los Angeles, Los Angeles, CA, USA. dhg@mednet.ucla.edu., Lee WP; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. wan-ping.lee@pennmedicine.upenn.edu.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. wan-ping.lee@pennmedicine.upenn.edu.
Corporate Authors: P. S. P. genetics study group
Source: Molecular neurodegeneration [Mol Neurodegener] 2024 Aug 16; Vol. 19 (1), pp. 61. Date of Electronic Publication: 2024 Aug 16.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266600 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1326 (Electronic) Linking ISSN: 17501326 NLM ISO Abbreviation: Mol Neurodegener Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
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  Data: <searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Chang+TS%22">Chang TS</searchLink>; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Dombroski+BA%22">Dombroski BA</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Cheng+PL%22">Cheng PL</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Patil+V%22">Patil V</searchLink>; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Valiente-Banuet+L%22">Valiente-Banuet L</searchLink>; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Farrell+K%22">Farrell K</searchLink>; Department of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain, Institute, Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Mclean+C%22">Mclean C</searchLink>; Victorian Brain Bank, The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Molina-Porcel+L%22">Molina-Porcel L</searchLink>; Alzheimer's Disease and Other Cognitive Disorders Unit. Neurology Service, Hospital Clínic, Fundació Recerca Clínic Barcelona (FRCB). Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.; Neurological Tissue Bank of the Biobanc-Hospital Clínic-IDIBAPS, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rajput+A%22">Rajput A</searchLink>; Movement Disorders Program, Division of Neurology, University of Saskatchewan, Saskatoon, SK, Canada.<br /><searchLink fieldCode="AU" term="%22De+Deyn+PP%22">De Deyn PP</searchLink>; Laboratory of Neurochemistry and Behavior, Experimental Neurobiology Unit, University of Antwerp, Wilrijk (Antwerp), Belgium.; Department of Neurology, University Medical Center Groningen, NL-9713 AV, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Le+Bastard+N%22">Le Bastard N</searchLink>; Fujirebio Europe NV, Technologiepark 6, 9052, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Gearing+M%22">Gearing M</searchLink>; Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Kaat+LD%22">Kaat LD</searchLink>; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Van+Swieten+JC%22">Van Swieten JC</searchLink>; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Dopper+E%22">Dopper E</searchLink>; Netherlands Brain Bank and Erasmus University, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Ghetti+BF%22">Ghetti BF</searchLink>; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Newell+KL%22">Newell KL</searchLink>; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Troakes+C%22">Troakes C</searchLink>; London Neurodegenerative Diseases Brain Bank, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22de+Yébenes+JG%22">de Yébenes JG</searchLink>; Autonomous University of Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rábano-Gutierrez+A%22">Rábano-Gutierrez A</searchLink>; Fundación CIEN (Centro de Investigación de Enfermedades Neurológicas) - Centro Alzheimer Fundación Reina Sofía, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Meller+T%22">Meller T</searchLink>; Department of Neurology, Philipps-Universität, Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Oertel+WH%22">Oertel WH</searchLink>; Department of Neurology, Philipps-Universität, Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Respondek+G%22">Respondek G</searchLink>; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Stamelou+M%22">Stamelou M</searchLink>; Parkinson's Disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece.; European University of Cyprus, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Arzberger+T%22">Arzberger T</searchLink>; Department of Psychiatry and Psychotherapy, University Hospital Munich, Ludwig-Maximilians-University Munich, Munich, Germany.; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Roeber+S%22">Roeber S</searchLink>; German Brain Bank, Neurobiobank Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Müller+U%22">Müller U</searchLink>; German Brain Bank, Neurobiobank Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hopfner+F%22">Hopfner F</searchLink>; Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Pastor+P%22">Pastor P</searchLink>; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias I Pujol, Badalona, Barcelona, Spain.; 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University McGill, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Litvan+I%22">Litvan I</searchLink>; Department of Neuroscience, University of California, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rademakers+R%22">Rademakers R</searchLink>; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Ross+OA%22">Ross OA</searchLink>; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Galasko+D%22">Galasko D</searchLink>; Department of Neuroscience, University of California, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Boxer+AL%22">Boxer AL</searchLink>; Memory and Aging Center, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+BL%22">Miller BL</searchLink>; Memory and Aging Center, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Seeley+WW%22">Seeley WW</searchLink>; Memory and Aging Center, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Van+Deerlin+VM%22">Van Deerlin VM</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+EB%22">Lee EB</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22White+CL+3rd%22">White CL 3rd</searchLink>; University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Morris+H%22">Morris H</searchLink>; Departmento of Clinical and Movement Neuroscience, University College of London, London, UK.<br /><searchLink fieldCode="AU" term="%22de+Silva+R%22">de Silva R</searchLink>; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Crary+JF%22">Crary JF</searchLink>; Department of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. 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  Data: <searchLink fieldCode="JN" term="%22101266600%22">Molecular neurodegeneration</searchLink> [Mol Neurodegener] 2024 Aug 16; Vol. 19 (1), pp. 61. <i>Date of Electronic Publication: </i>2024 Aug 16.
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          Dates:
            – D: 16
              M: 08
              Text: 2024 Aug 16
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1326
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Molecular neurodegeneration
              Type: main
ResultId 1