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Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

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第一作者: Cyril,Pottier
第一单位: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. cpottier@wustl.edu.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. cpottier@wustl.edu.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. cpottier@wustl.edu.;Department of Neurology, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.;NeuroGenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.
作者: Cyril,Pottier [1] ; Fahri,Küçükali [2] ; Matt,Baker [3] ; Anthony,Batzler [4] ; Gregory D,Jenkins [4] ; Marka,van Blitterswijk [3] ; Cristina T,Vicente [2] ; Wouter,De Coster [2] ; Sarah,Wynants [2] ; Pieter,Van de Walle [2] ; Owen A,Ross [3] ; Melissa E,Murray [3] ; Júlia,Faura [2] ; Stephen J,Haggarty [5] ; Jeroen Gj,van Rooij [6] ; Merel O,Mol [6] ; Ging-Yuek R,Hsiung [7] ; Caroline,Graff [8] ; Linn,Öijerstedt [8] ; Manuela,Neumann [9] ; Yan,Asmann [10] ; Shannon K,McDonnell [4] ; Saurabh,Baheti [4] ; Keith A,Josephs [11] ; Jennifer L,Whitwell [12] ; Kevin F,Bieniek [13] ; Leah,Forsberg [11] ; Hilary,Heuer [14] ; Argentina Lario,Lago [14] ; Ethan G,Geier [14] ; Jennifer S,Yokoyama [14] ; Alexis P,Oddi [14] ; Margaret,Flanagan [15] ; Qinwen,Mao [16] ; John R,Hodges [17] ; John B,Kwok [18] ; Kimiko,Domoto-Reilly [19] ; Matthis,Synofzik [20] ; Carlo,Wilke [20] ; Chiadi,Onyike [21] ; Bradford C,Dickerson [22] ; Bret M,Evers [23] ; Brittany N,Dugger [24] ; David G,Munoz [25] ; Julia,Keith [26] ; Lorne,Zinman [27] ; Ekaterina,Rogaeva [28] ; EunRan,Suh [29] ; Tamar,Gefen [30] ; Changiz,Geula [30] ; Sandra,Weintraub [30] ; Janine,Diehl-Schmid [31] ; Martin R,Farlow [32] ; Dieter,Edbauer [33] ; Bryan K,Woodruff [34] ; Richard J,Caselli [34] ; Laura L,Donker Kaat [35] ; Edward D,Huey [36] ; Eric M,Reiman [37] ; Simon,Mead [38] ; Andrew,King [39] ; Sigrun,Roeber [40] ; Alissa L,Nana [14] ; Nilufer,Ertekin-Taner [41] ; David S,Knopman [11] ; Ronald C,Petersen [11] ; Leonard,Petrucelli [3] ; Ryan J,Uitti [42] ; Zbigniew K,Wszolek [42] ; Eliana Marisa,Ramos [43] ; Lea T,Grinberg [14] ; Maria Luisa Gorno,Tempini [14] ; Howard J,Rosen [44] ; Salvatore,Spina [14] ; Olivier,Piguet [45] ; Murray,Grossman [46] ; John Q,Trojanowski [29] ; C Dirk,Keene [47] ; Lee-Way,Jin [48] ; Johannes,Prudlo [49] ; Daniel H,Geschwind [43] ; Robert A,Rissman [50] ; Carlos,Cruchaga [51] ; Bernardino,Ghetti [52] ; Glenda M,Halliday [53] ; Thomas G,Beach [54] ; Geidy E,Serrano [54] ; Thomas,Arzberger [55] ; Jochen,Herms [56] ; Adam L,Boxer [14] ; Lawrence S,Honig [57] ; Jean P,Vonsattel [58] ; Oscar L,Lopez [59] ; Julia,Kofler [60] ; Charles L,White [23] ; Marla,Gearing [61] ; Jonathan,Glass [61] ; Jonathan D,Rohrer [62] ; David J,Irwin [46] ; Edward B,Lee [29] ; Vivianna,Van Deerlin [29] ; Rudolph,Castellani [63] ; Marsel M,Mesulam [30] ; Maria C,Tartaglia [28] ; Elizabeth C,Finger [64] ; Claire,Troakes [65] ; Safa,Al-Sarraj [66] ; Clifton L,Dalgard [67] ; Bruce L,Miller [14] ; Harro,Seelaar [6] ; Neill R,Graff-Radford [42] ; Bradley F,Boeve [11] ; Ian Ra,Mackenzie [68] ; John C,van Swieten [6] ; William W,Seeley [14] ; Kristel,Sleegers [2] ; Dennis W,Dickson [3] ; Joanna M,Biernacka [69] ; Rosa,Rademakers [70]
作者单位: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. cpottier@wustl.edu.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. cpottier@wustl.edu.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. cpottier@wustl.edu.;Department of Neurology, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.;NeuroGenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu. [1] Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. [2] Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. [3] Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. [4] Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. [5] Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands. [6] Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, BC, Canada. [7] Division of Neurogeriatrics, Karolinska Institutet, Solna, Sweden.;Unit for Hereditary Dementias, Karolinska University Hospital, Solna, Sweden. [8] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.;Department of Neuropathology, University of Tübingen, Tübingen, Germany. [9] Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL, USA. [10] Department of Neurology, Mayo Clinic, Rochester, MN, USA. [11] Department of Radiology, Mayo Clinic, Rochester, MN, USA. [12] Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.;University of Texas Health Science Center San Antonio, San Antonio, TX, USA. [13] Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA. [14] University of Texas Health Science Center San Antonio, San Antonio, TX, USA. [15] Department of Pathology, University of Utah, Salt Lake City, UT, USA. [16] Central Clinical School and Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia. [17] University of Sydney, Sydney, NSW, Australia.;NeuRA, University of New South Wales, Randwick, NSW, Australia. [18] Department of Neurology, University of Washington, Seattle, WA, USA. [19] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.;Division Translational Genomics of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [20] Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA. [21] Department of Neurology, Case Western Reserve University, Cleveland, OH, USA. [22] Division of Neuropathology, University of Texas Southwestern Medical Center, Dallas, TX, USA. [23] Department of Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA, USA. [24] St. Michael's Hospital, Toronto, ON, Canada.;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. [25] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.;Sunnybrook Health Sciences Centre, Toronto, ON, Canada. [26] Sunnybrook Health Sciences Centre, Toronto, ON, Canada. [27] Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, ON, Canada. [28] Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. [29] Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, USA. [30] Department of Psychiatry and Psychotherapy, Technical University of Munich, Munich, Germany.;kbo-Inn-Salzach-Klinikum, Clinical Center for Psychiatry, Psychotherapy, Psychosomatic Medicine, Geriatrics and Neurology, Wasserburg/Inn, Germany. [31] Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA. [32] German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. [33] Department of Neurology, Mayo Clinic, Scottsdale, AZ, USA. [34] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. [35] Department of Psychiatry and Human Behavior, Brown Alpert Medical School, Brown University, Providence, RI, USA. [36] Banner Alzheimer's Institute, Phoenix, AZ, USA. [37] MRC Prion Unit at University College London, Institute of Prion Diseases, London, UK. [38] Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.;Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK. [39] Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany. [40] Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.;Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. [41] Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. [42] Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. [43] Department of Pathology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA. [44] School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, SWA, Australia. [45] Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. [46] University of Washington BioRepository and Integrated Neuropathology (BRaIN) lab, Harborview Medical Center, Seattle, WA, USA. [47] M.I.N.D. Institute Laboratory, University of California, Davis Medical Center, Sacramento, CA, USA. [48] German Center for Neurodegenerative Diseases (DZNE), Rostock, Germany.;Department of Neurology, Rostock University Medical Center, Rostock, Germany. [49] Alzheimer's Therapeutic Research Institute, Keck School of Medicine of the University of Southern California, San Diego, CA, USA. [50] Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, USA. [51] Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA. [52] University of Sydney, Sydney, NSW, Australia. [53] Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA. [54] Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.;Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany. [55] German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.;Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany. [56] Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA. [57] Department of Pathology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA. [58] Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA. [59] Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA. [60] Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, USA. [61] Department of Neurodegenerative Disease, Dementia Research Centre, University College London, Queen Square Institute of Neurology, London, UK. [62] Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. [63] Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada. [64] Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. [65] Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.;King's College Hospital NHS Foundation Trust, London, UK. [66] Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. [67] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada. [68] Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.;Department of Psychiatry & Psychology, Mayo Clinic, Rochester, MN, USA. [69] Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. rosa.rademakers@uantwerpen.vib.be.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. rosa.rademakers@uantwerpen.vib.be.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. rosa.rademakers@uantwerpen.vib.be. [70]
DOI 10.1038/s41467-025-59216-0
PMID 40280976
发布时间 2026-03-06
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