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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

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作者: Elizabeth T,Cirulli [1] ; Brittany N,Lasseigne [2] ; Slavé,Petrovski [3] ; Peter C,Sapp [4] ; Patrick A,Dion [5] ; Claire S,Leblond [5] ; Julien,Couthouis [6] ; Yi-Fan,Lu [3] ; Quanli,Wang [3] ; Brian J,Krueger [3] ; Zhong,Ren [3] ; Jonathan,Keebler [7] ; Yujun,Han [7] ; Shawn E,Levy [2] ; Braden E,Boone [2] ; Jack R,Wimbish [2] ; Lindsay L,Waite [2] ; Angela L,Jones [2] ; John P,Carulli [8] ; Aaron G,Day-Williams [8] ; John F,Staropoli [8] ; Winnie W,Xin [9] ; Alessandra,Chesi [6] ; Alya R,Raphael [6] ; Diane,McKenna-Yasek [4] ; Janet,Cady [10] ; J M B,Vianney de Jong [11] ; Kevin P,Kenna [12] ; Bradley N,Smith [13] ; Simon,Topp [13] ; Jack,Miller [13] ; Athina,Gkazi [13] ; FALS Sequencing Consortium [13] ; Ammar,Al-Chalabi [14] ; Leonard H,van den Berg [14] ; Jan,Veldink [15] ; Vincenzo,Silani [15] ; Nicola,Ticozzi [13] ; Christopher E,Shaw [16] ; Robert H,Baloh [17] ; Stanley,Appel [17] ; Ericka,Simpson [18] ; Clotilde,Lagier-Tourenne [19] ; Stefan M,Pulst [19] ; Summer,Gibson [20] ; John Q,Trojanowski [21] ; Lauren,Elman [21] ; Leo,McCluskey [22] ; Murray,Grossman [23] ; Neil A,Shneider [24] ; Wendy K,Chung [25] ; John M,Ravits [26] ; Jonathan D,Glass [9] ; Katherine B,Sims [20] ; Vivianna M,Van Deerlin [27] ; Tom,Maniatis [28] ; Sebastian D,Hayes [29] ; Alban,Ordureau [29] ; Sharan,Swarup [4] ; John,Landers [11] ; Frank,Baas [30] ; Andrew S,Allen [31] ; Richard S,Bedlack [29] ; J Wade,Harper [6] ; Aaron D,Gitler [5] ; Guy A,Rouleau [4] ; Robert,Brown [10] ; Matthew B,Harms [2] ; Gregory M,Cooper [32] ; Tim,Harris [2] ; Richard M,Myers [3] ; David B,Goldstein
作者单位: Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC 27708, USA. [1] HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. [2] Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. [3] Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA. [4] Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada. [5] Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. [6] Duke University School of Medicine, Durham, NC 27708, USA. [7] Biogen Idec, Cambridge, MA 02142, USA. [8] Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. [9] Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA. [10] Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands. [11] Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland. [12] Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK. [13] Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands. [14] Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy. [15] Cedars Sinai Medical Center, Los Angeles, CA 90048, USA. [16] Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA. [17] Ludwig Institute for Cancer Research and Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. [18] Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA. [19] Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. [20] Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. [21] Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. [22] Department of Neurology, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA. [23] Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA. [24] Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. [25] Department of Neurology, Emory University, Atlanta, GA 30322, USA. [26] Department of Biochemistry & Molecular Biophysics, Columbia University, New York, NY 10027, USA. [27] Biogen Idec, Cambridge, MA 02142, USA. Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA. [28] Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA. [29] Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27708, USA. [30] Duke ALS Clinic and Durham VA Medical Center, Durham, NC 27708, USA. [31] Biogen Idec, Cambridge, MA 02142, USA. tim.harris@biogenidec.com. [32]
DOI 10.1126/science.aaa3650
PMID 25700176
发布时间 2022-04-19
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