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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Authors:Ramita Dewan  Ruth Chia  Jinhui Ding  Richard A Hickman  Thor D Stein  Yevgeniya Abramzon  Sarah Ahmed  Marya S Sabir  Makayla K Portley  Arianna Tucci  Kristina Ibáñez  FNU Shankaracharya  Pamela Keagle  Giacomina Rossi  Paola Caroppo  Fabrizio Tagliavini  Maria L Waldo  Per M Johansson  Bryan J Traynor
Institution:1. Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA;2. Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA;3. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA;4. Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA 02118, USA;5. Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA 02118, USA;6. Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA;7. Department of Veterans Affairs Medical Center, Bedford, MA 01730, USA;8. Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK;9. Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA;10. Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK;11. Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA;12. Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy;13. Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy;14. Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, Lund 221 84, Sweden;15. Department of Internal Medicine, Sahlgrenska Academy, University of Gottenburg, Gottenburg 413 45, Sweden;16. Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Skåne University Hospital, 205 02 Malmö, Sweden;17. Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge Biomedical Campus, Cambridge CB2 02Z, UK;18. Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy;19. MAC Memory Clinic, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy;20. Department of Neurology, Royal Free Hospital, London NW3 2PF, UK;21. Department of Clinical and Movement Neuroscience, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK;22. Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA;23. Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA;24. Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA;25. Department of Neurology - Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy;26. Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy;27. Department of Neuroscience & Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA;28. Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK;29. NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 3JH, UK;30. The Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA;31. Longitudinal Studies Section, National Institute on Aging, Baltimore, MD 21224, USA;32. Laboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD 21224, USA;33. Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK;34. Department of Neurology & Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA 02118, USA;35. Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA;36. Department of Neurology, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA;37. Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA 02118, USA;38. Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK;39. UK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK;40. NINR University College London Hospitals Biomedical Research Centre, University College London, London W1T 7DN, UK;41. Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China;42. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;43. Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA;44. Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin 10126, Italy;45. Institute of Cognitive Sciences and Technologies, C.N.R., Rome 00185, Italy;46. Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin 10126, Italy;47. Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA;48. The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA;49. Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA
Abstract:
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Keywords:amyotrophic lateral sclerosis  frontotemporal dementia  whole-genome sequencing  huntingtin  repeat expansions
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