换一批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.
第一作者：
Cyril,Pottier
第一单位：
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
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 [8]
;
Manuela,Neumann [9]
;
Peter,Heutink [10]
;
Matthis,Synofzik [10]
;
Carlo,Wilke [10]
;
Johannes,Prudlo [11]
;
Patrizia,Rizzu [12]
;
Javier,Simon-Sanchez [10]
;
Dieter,Edbauer [13]
;
Sigrun,Roeber [14]
;
Janine,Diehl-Schmid [15]
;
Bret M,Evers [16]
;
Andrew,King [17]
;
M Marsel,Mesulam [18]
;
Sandra,Weintraub [19]
;
Changiz,Geula [18]
;
Kevin F,Bieniek [20]
;
Leonard,Petrucelli [1]
;
Geoffrey L,Ahern [21]
;
Eric M,Reiman [22]
;
Bryan K,Woodruff [23]
;
Richard J,Caselli [23]
;
Edward D,Huey [24]
;
Martin R,Farlow [25]
;
Jordan,Grafman [26]
;
Simon,Mead [27]
;
Lea T,Grinberg [28]
;
Salvatore,Spina [5]
;
Murray,Grossman [29]
;
David J,Irwin [29]
;
Edward B,Lee [30]
;
EunRan,Suh [30]
;
Julie,Snowden [31]
;
David,Mann [32]
;
Nilufer,Ertekin-Taner [33]
;
Ryan J,Uitti [34]
;
Zbigniew K,Wszolek [34]
;
Keith A,Josephs [35]
;
Joseph E,Parisi [35]
;
David S,Knopman [35]
;
Ronald C,Petersen [35]
;
John R,Hodges [36]
;
Olivier,Piguet [37]
;
Ethan G,Geier [5]
;
Jennifer S,Yokoyama [5]
;
Robert A,Rissman [38]
;
Ekaterina,Rogaeva [39]
;
Julia,Keith [40]
;
Lorne,Zinman [41]
;
Maria Carmela,Tartaglia [42]
;
Nigel J,Cairns [43]
;
Carlos,Cruchaga [44]
;
Bernardino,Ghetti [45]
;
Julia,Kofler [46]
;
Oscar L,Lopez [47]
;
Thomas G,Beach [48]
;
Thomas,Arzberger [49]
;
Jochen,Herms [50]
;
Lawrence S,Honig [51]
;
Jean Paul,Vonsattel [52]
;
Glenda M,Halliday [53]
;
John B,Kwok [53]
;
Charles L,White [16]
;
Marla,Gearing [54]
;
Jonathan,Glass [54]
;
Sara,Rollinson [55]
;
Stuart,Pickering-Brown [55]
;
Jonathan D,Rohrer [56]
;
John Q,Trojanowski [30]
;
Vivianna,Van Deerlin [30]
;
Eileen H,Bigio [18]
;
Claire,Troakes [57]
;
Safa,Al-Sarraj [17]
;
Yan,Asmann [2]
;
Bruce L,Miller [5]
;
Neill R,Graff-Radford [34]
;
Bradley F,Boeve [35]
;
William W,Seeley [28]
;
Ian R A,Mackenzie [58]
;
John C,van Swieten [4]
;
Dennis W,Dickson [1]
;
Joanna M,Biernacka [3]
;
Rosa,Rademakers [59]
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.;Theme Aging, Unit for Hereditary Dementias, Karolinska University Hospital, Solna, Sweden.
[8]
German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany.;Department of Neuropathology, University of Tübingen, 72076, Tübingen, Germany.
[9]
German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany.;Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.
[10]
German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany.;Department of Neurology, Rostock University Medical Center, 18147, Rostock, Germany.
[11]
German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany.
[12]
German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Str 17, 81377, Munich, Germany.;Munich Cluster of Systems Neurology (SyNergy), Feodor-Lynen-Str 17, 81377, Munich, Germany.
[13]
Center for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Feodor-Lynen-Straße 23, 81377, Munich, Germany.
[14]
Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany.
[15]
Division of Neuropathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9073, USA.
[16]
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.;Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, SE5 9RS, UK.
[17]
Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, 60611, USA.
[18]
Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, 60611, USA.;Department of Psychiatry and Behavioral Sciences and Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
[19]
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.;Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center San Antonio, San Antonio, TX, 78229, USA.
[20]
Department of Neurology, University of Arizona Health Sciences Center, 1501 North Campbell Avenue, Tucson, AZ, 85724-5023, USA.
[21]
Banner Alzheimer's Institute, Phoenix, AZ, 85006, USA.
[22]
Department of Neurology, Mayo Clinic Arizona, Scottsdale, AZ, 85259, USA.
[23]
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.
[24]
Indiana University School of Medicine, 355 West 16th Street, GH 4700 Neurology, Indianapolis, IN, 46202, USA.
[25]
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.
[26]
MRC Prion Unit at University College London, Institute of Prion Diseases, London, UK.
[27]
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.;Department of Pathology, Memory and Aging Center, University of California, San Francisco, CA, USA.
[28]
Penn Frontotemporal Degeneration Center, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
[29]
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
[30]
Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Salford, UK.
[31]
Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Salford Royal Hospital, Salford, UK.
[32]
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.;Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
[33]
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
[34]
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
[35]
Central Clinical School and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia.
[36]
School of Psychology and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia.
[37]
Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.;Veterans Affairs San Diego Healthcare System, San Diego, CA, 92161, USA.
[38]
Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, 60 Leonard Av, 4th Floor - 4KD481, Toronto, ON, M5T 0S8, Canada.
[39]
Sunnybrook Health Sciences Centre, Toronto, ON, M4N 3M5, Canada.;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A1, Canada.
[40]
Sunnybrook Health Sciences Centre, Toronto, ON, M4N 3M5, Canada.
[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.;Krembil Neuroscience Center, Movement Disorder's Clinic, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON, M5T 2S8, Canada.
[42]
Department of Neurology, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA.
[43]
Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA.
[44]
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 635 Barnhill Drive, MS A138, Indianapolis, IN, 46202, USA.
[45]
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15213, USA.
[46]
Department of Neurology, University of Arizona Health Sciences Center, 1501 North Campbell Avenue, Tucson, AZ, 85724-5023, USA.;Department of Neurology, University of Pittsburgh, Pittsburgh, PA, 15213, USA.
[47]
Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, 85351, USA.
[48]
German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Str 17, 81377, Munich, Germany.;Center for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Feodor-Lynen-Straße 23, 81377, Munich, Germany.;Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University of Munich, Nussbaumstraße 7, 80336, Munich, Germany.
[49]
German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Str 17, 81377, Munich, Germany.;Center for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Feodor-Lynen-Straße 23, 81377, Munich, Germany.
[50]
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.
[51]
Department of Pathology and Taub Institute, Columbia University Irving Medical Center, 630 West 168th St, New York, NY, 10032, USA.
[52]
Central Clinical School and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia.;UNSW Medicine and NeuRA, Randwick, 2031, Australia.
[53]
Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, 30322, USA.
[54]
Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[55]
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
[56]
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.
[57]
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, V5Z 1M9, Canada.
[58]
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. Rademakers.rosa@mayo.edu.
[59]
医学主题词
老年人(Aged);DNA重复序列扩增(DNA Repeat Expansion);二肽基肽酶类和三肽基肽酶类(Dipeptidyl-Peptidases and Tripeptidyl-Peptidases);女(雌)性(Female);额叶(Frontal Lobe);额颞叶变性(Frontotemporal Lobar Degeneration);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);HLA-DQ抗原(HLA-DQ Antigens);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);中年人(Middle Aged);神经组织蛋白质类(Nerve Tissue Proteins);钾通道(Potassium Channels);蛋白质类(Proteins);RNA, 信使(RNA, Messenger);危险因素(Risk Factors);序列分析, RNA(Sequence Analysis, RNA);学会, 科学(Societies, Scientific);TDP-43蛋白质病(TDP-43 Proteinopathies)
DOI
10.1007/s00401-019-01962-9
PMID
30739198
发布时间
2025-05-30
- 浏览28
Acta neuropathologica
Acta neuropathologica
879-899页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
