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Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.

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Title: Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
Authors: Wang H; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Chang TS; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Dombroski BA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Cheng PL; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Si YQ; Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA., Tucci A; Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA., Patil V; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Valiente-Banuet L; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Li C; Department of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, Pennsylvania, 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 and Research CoRE, Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Mclean C; Victorian Brain Bank, The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, 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, Saskatchewan, Canada., De Deyn PP; Laboratory of Neurochemistry and Behavior, Experimental Neurobiology Unit, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands., Le Bastard N; Fujirebio Europe NV, Ghent, Belgium., Gearing M; Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Donker Kaat L; Netherlands Brain Bank and Erasmus University, Rotterdam, The Netherlands., Van Swieten JC; Netherlands Brain Bank and Erasmus University, Rotterdam, The Netherlands., Dopper E; Netherlands Brain Bank and Erasmus University, Rotterdam, The Netherlands., Ghetti BF; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Newell KL; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Troakes C; London Neurodegenerative Diseases Brain Bank, King's College London, London, United Kingdom., 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; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany., Müller U; Institute of Human Genetics, Justus-Liebig University Giessen, Giessen, Germany., Hopfner F; Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Pastor P; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias i Pujol, Barcelona, Spain.; Neurosciences, The Germans Trias i Pujol Research Institute, Barcelona, 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, Arizona, USA., Serrano GE; Banner Sun Health Research Institute, Sun City, Arizona, USA., Hazrati LN; Department of Pathology, University McGill, Montreal, Quebec, Canada., Litvan I; Department of Neuroscience, University of California San Diego, La Jolla, California, USA., Rademakers R; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Ross OA; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Galasko D; Department of Neuroscience, University of California San Diego, La Jolla, California, USA., Boxer AL; Memory and Aging Center, University of California San Francisco, San Francisco, California, USA., Miller BL; Memory and Aging Center, University of California San Francisco, San Francisco, California, USA., Seeley WW; Memory and Aging Center, University of California San Francisco, San Francisco, California, USA., Van Deerlin VM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lee EB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., White CL 3rd; University of Texas Southwestern Medical Center, Dallas, Texas, USA., Morris HR; Departmento of Clinical and Movement Neuroscience, University College of London, London, United Kingdom., de Silva R; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, United Kingdom., 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 and Research CoRE, Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Goate AM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Friedman JS; Friedman Bioventure, Inc., Del Mar, California, USA., Compta Y; Parkinson's Disease & Movement Disorders Unit, Hospital Clínic de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, UBNeuro - Maria de Maeztu Excellence Centre, Universitat de Barcelona, Barcelona, Spain.; Fellow of the Royal Academy of Medicine of Catalonia, Barcelona, Spain., Leung YY; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Coppola G; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.; Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA., Naj AC; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wang LS; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Dalgard C; Department of Anatomy Physiology and Genetics, the American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA., Dickson DW; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Höglinger GU; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Tzeng JY; Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA.; Department of Statistics, North Carolina State University, Raleigh, North Carolina, USA., Geschwind DH; Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.; Institute of Precision Health, University of California Los Angeles, Los Angeles, California, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lee WP; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Corporate Authors: PSP Genetics Study Group
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 May; Vol. 40 (5), pp. 950-961. Date of Electronic Publication: 2025 Mar 08.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
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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, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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, California, 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, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Si+YQ%22">Si YQ</searchLink>; Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, 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, California, 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, California, USA.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; Department of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, Pennsylvania, 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. 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Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Newell+KL%22">Newell KL</searchLink>; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Troakes+C%22">Troakes C</searchLink>; London Neurodegenerative Diseases Brain Bank, King's College London, London, United Kingdom.<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>; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Müller+U%22">Müller U</searchLink>; 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      – TitleFull: Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
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          Dates:
            – D: 01
              M: 05
              Text: 2025 May
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8257
          Numbering:
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              Value: 40
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Movement disorders : official journal of the Movement Disorder Society
              Type: main
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