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Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

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作者: Cyril,Pottier [1] ; Yingxue,Ren [2] ; Ralph B,Perkerson [1] ; Matt,Baker [1] ; Gregory D,Jenkins [3] ; Marka,van Blitterswijk [1] ; Mariely,DeJesus-Hernandez [1] ; Jeroen G J,van Rooij [4] ; Melissa E,Murray [1] ; Elizabeth,Christopher [1] ; Shannon K,McDonnell [3] ; Zachary,Fogarty [3] ; Anthony,Batzler [3] ; Shulan,Tian [3] ; Cristina T,Vicente [1] ; Billie,Matchett [1] ; Anna M,Karydas [5] ; Ging-Yuek Robin,Hsiung [6] ; Harro,Seelaar [4] ; Merel O,Mol [4] ; Elizabeth C,Finger [7] ; Caroline,Graff [8] ; Linn,Öijerstedt [9] ; Manuela,Neumann [8] ; Peter,Heutink [9] ; Matthis,Synofzik [10] ; Carlo,Wilke [11] ; Johannes,Prudlo [10] ; Patrizia,Rizzu [12] ; Javier,Simon-Sanchez [10] ; Dieter,Edbauer [12] ; Sigrun,Roeber [10] ; Janine,Diehl-Schmid [12] ; Bret M,Evers [10] ; Andrew,King [13] ; M Marsel,Mesulam [10] ; Sandra,Weintraub [10] ; Changiz,Geula [12] ; Kevin F,Bieniek [14] ; Leonard,Petrucelli [15] ; Geoffrey L,Ahern [16] ; Eric M,Reiman [17] ; Bryan K,Woodruff [18] ; Richard J,Caselli [19] ; Edward D,Huey [20] ; Martin R,Farlow [21] ; Jordan,Grafman [21] ; Simon,Mead [22] ; Lea T,Grinberg [21] ; Salvatore,Spina [1] ; Murray,Grossman [23] ; David J,Irwin [1] ; Edward B,Lee [24] ; EunRan,Suh [25] ; Julie,Snowden [26] ; David,Mann [26] ; Nilufer,Ertekin-Taner [27] ; Ryan J,Uitti [28] ; Zbigniew K,Wszolek [29] ; Keith A,Josephs [30] ; Joseph E,Parisi [5] ; David S,Knopman [31] ; Ronald C,Petersen [5] ; John R,Hodges [32] ; Olivier,Piguet [32] ; Ethan G,Geier [33] ; Jennifer S,Yokoyama [33] ; Robert A,Rissman [34] ; Ekaterina,Rogaeva [35] ; Julia,Keith [1] ; Lorne,Zinman [36] ; Maria Carmela,Tartaglia [36] ; Nigel J,Cairns [36] ; Carlos,Cruchaga [37] ; Bernardino,Ghetti [37] ; Julia,Kofler [37] ; Oscar L,Lopez [37] ; Thomas G,Beach [38] ; Thomas,Arzberger [39] ; Jochen,Herms [5] ; Lawrence S,Honig [5] ; Jean Paul,Vonsattel [40] ; Glenda M,Halliday [41] ; John B,Kwok [42] ; Charles L,White [43] ; Marla,Gearing [44] ; Jonathan,Glass [43] ; Sara,Rollinson [42] ; Stuart,Pickering-Brown [45] ; Jonathan D,Rohrer [46] ; John Q,Trojanowski [47] ; Vivianna,Van Deerlin [48] ; Eileen H,Bigio [49] ; Claire,Troakes [24] ; Safa,Al-Sarraj [50] ; Yan,Asmann [51] ; Bruce L,Miller [14] ; Neill R,Graff-Radford [16] ; Bradley F,Boeve [52] ; William W,Seeley [14] ; Ian R A,Mackenzie [16] ; John C,van Swieten [53] ; Dennis W,Dickson [54] ; Joanna M,Biernacka [38] ; Rosa,Rademakers [55]
作者单位: Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. [1] Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL, USA. [2] Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. [3] Department of Neurology, Erasmus Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands. [4] Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA. [5] Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, V6T 2B5, Canada. [6] Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 2E2, Canada. [7] Division of Neurogeriatrics, Department NVS, Karolinska Institutet, Visionsgatan 4, J10:20, 171 64, Solna, Sweden. [8] Theme Aging, Unit for Hereditary Dementias, Karolinska University Hospital, Solna, Sweden. [9] German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany. [10] Department of Neuropathology, University of Tübingen, 72076, Tübingen, Germany. [11] Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany. [12] Department of Neurology, Rostock University Medical Center, 18147, Rostock, Germany. [13] German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Str 17, 81377, Munich, Germany. [14] Munich Cluster of Systems Neurology (SyNergy), Feodor-Lynen-Str 17, 81377, Munich, Germany. [15] Center for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Feodor-Lynen-Straße 23, 81377, Munich, Germany. [16] Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany. [17] Division of Neuropathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9073, USA. [18] London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK. [19] Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, SE5 9RS, UK. [20] Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, 60611, USA. [21] Department of Psychiatry and Behavioral Sciences and Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA. [22] Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center San Antonio, San Antonio, TX, 78229, USA. [23] Department of Neurology, University of Arizona Health Sciences Center, 1501 North Campbell Avenue, Tucson, AZ, 85724-5023, USA. [24] Banner Alzheimer's Institute, Phoenix, AZ, 85006, USA. [25] Department of Neurology, Mayo Clinic Arizona, Scottsdale, AZ, 85259, USA. [26] Departments of Psychiatry and Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, 630 West 168th St P&S Box 16, New York, NY, 10032, USA. [27] Indiana University School of Medicine, 355 West 16th Street, GH 4700 Neurology, Indianapolis, IN, 46202, USA. [28] Department of Physical Medicine and Rehabilitation, Neurology, Cognitive Neurology and Alzheimer's Center, Department of Psychiatry, Feinberg School of Medicine, Northwestern University, 355 E Erie Street, Chicago, IL, 60611-5146, USA. [29] MRC Prion Unit at University College London, Institute of Prion Diseases, London, UK. [30] Department of Pathology, Memory and Aging Center, University of California, San Francisco, CA, USA. [31] Penn Frontotemporal Degeneration Center, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. [32] Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. [33] Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Salford, UK. [34] Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Salford Royal Hospital, Salford, UK. [35] Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. [36] Department of Neurology, Mayo Clinic, Rochester, MN, USA. [37] Central Clinical School and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia. [38] School of Psychology and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia. [39] Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA. [40] Veterans Affairs San Diego Healthcare System, San Diego, CA, 92161, USA. [41] Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, 60 Leonard Av, 4th Floor - 4KD481, Toronto, ON, M5T 0S8, Canada. [42] Sunnybrook Health Sciences Centre, Toronto, ON, M4N 3M5, Canada. [43] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A1, Canada. [44] Krembil Neuroscience Center, Movement Disorder's Clinic, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON, M5T 2S8, Canada. [45] Department of Neurology, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA. [46] Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA. [47] Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 635 Barnhill Drive, MS A138, Indianapolis, IN, 46202, USA. [48] Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15213, USA. [49] Department of Neurology, University of Pittsburgh, Pittsburgh, PA, 15213, USA. [50] Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, 85351, USA. [51] Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University of Munich, Nussbaumstraße 7, 80336, Munich, Germany. [52] Department of Neurology, Taub Institute, and GH Sergievsky Center, Columbia University Irving Medical Center, 630 West 168th St (P&S Unit 16), New York, NY, 10032, USA. [53] Department of Pathology and Taub Institute, Columbia University Irving Medical Center, 630 West 168th St, New York, NY, 10032, USA. [54] UNSW Medicine and NeuRA, Randwick, 2031, Australia. [55] Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, 30322, USA. [56] Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. [57] Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. [58] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, V5Z 1M9, Canada. [59] Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. Rademakers.rosa@mayo.edu. [60]
DOI 10.1007/s00401-019-01962-9
PMID 30739198
发布时间 2024-03-27
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