{"id":"W4394800621","doi":"10.1016/s1474-4422(24)00083-8","title":"MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study","year":2024,"lang":"en","type":"article","venue":"The Lancet Neurology","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; University of Toronto; Western University; Ontario Brain Institute; University of British Columbia; McGill University; Toronto Rehabilitation Institute; Douglas Mental Health University Institute; Occupational Cancer Research Centre; Health Sciences Centre; University Health Network; Sunnybrook Health Science Centre","funders":"State of Florida; National Institute on Deafness and Other Communication Disorders; National Institute on Aging; Faculty of Medicine and Health, University of Sydney; Nederlands Herseninstituut; NIHR Oxford Biomedical Research Centre; Schulich School of Medicine and Dentistry; National Health and Medical Research Council; Medical Research Council; Alzheimer's Disease Research Center, University of Pittsburgh; NIHR Cambridge Biomedical Research Centre; Tau Consortium; Directorate for Biological Sciences; Rossy Foundation; Drake Foundation; Schulich School of Medicine and Dentistry, Western University; National Institutes of Health; Nationale Genossenschaft für die Lagerung radioaktiver Abfälle; Goizueta Business School, Emory University; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Victorian Brain Bank; UK Dementia Research Institute; Yulgilbar Foundation; Irving Medical Center, Columbia University; Centre hospitalier universitaire Sainte-Justine; Sorbonne Université; Universiteit Antwerpen; Centre Hospitalier Universitaire de Rennes; Centre Hospitalier Régional Universitaire de Montpellier; National Institute of Neurological Disorders and Stroke; Arizona Biomedical Research Commission; Deutsches Zentrum für Neurodegenerative Erkrankungen; Memphis Research Consortium; Banco Bilbao Vizcaya Argentaria; Chung Hua University; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Università degli Studi di Firenze; Karolinska Institutet; University of California, San Francisco; U.S. Department of Health and Human Services; Mayo Clinic; Universiteit Gent; Newcastle upon Tyne Hospitals NHS Foundation Trust; Aligning Science Across Parkinson’s; University of Toronto; CurePSP; Edmond J. Safra Philanthropic Foundation; New York State Department of Health; Newcastle University; Fonds de Recherche du Québec - Santé; School of Medicine, Emory University; Universitair Ziekenhuis Gent; King's College London; University of Cambridge; Parkinson's UK; Department of Health and Social Care; Alzheimer Society; National Institute for Health and Care Research; Nederlandse Hersenbank; NIHR Newcastle Biomedical Research Centre; Evelyn Trust; Alzheimer’s Research UK; Lewy Body Dementia Association; Canadian Institutes of Health Research; Alzheimer's Society; FightMND; PSP Association; Mayo Foundation for Medical Education and Research; Northwestern University; Sunnybrook Research Institute; Wellcome Trust; Klinisch Chemisch Laboratorium; Arizona Department of Health Services; King's College Hospital NHS Foundation Trust; Rainwater Charitable Foundation; Fondation Brain Canada; London Health Sciences Centre; McGill University; Demensförbundet; Parkinson’s Victoria; Michael J. Fox Foundation for Parkinson's Research; Emory University; Cambridge University Hospitals; PCB Solutions; University of Pennsylvania; Canada First Research Excellence Fund; Little Family Foundation; National Institute on Handicapped Research; Fundación BBVA; Universidade do Minho; Brain Research UK; U.S. Department of Defense","keywords":"Progressive supranuclear palsy; Corticobasal degeneration; Haplotype; Tauopathy; Tau protein; Frontotemporal dementia; Disease; Medicine; Dementia; Pick's disease; Genetics; Alzheimer's disease; Pathology; Biology; Genotype; Neurodegeneration; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000362628,0.0001009511,0.0001967617,0.00007566644,0.0000513664,0.00002736981,0.0001598813,0.00002665693,0.00005637127],"category_scores_gemma":[0.0003215688,0.00005641743,0.0000524564,0.0001271457,0.0001069,0.00003485896,0.00007497195,0.0002710978,0.0000324416],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002469151,"about_ca_system_score_gemma":0.0001139368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000133627,"about_ca_topic_score_gemma":0.00007727792,"domain_scores_codex":[0.9985181,0.0005328651,0.0001678122,0.0002319506,0.00032938,0.0002198973],"domain_scores_gemma":[0.9990014,0.0004706631,0.00005936713,0.0003056156,0.0000407422,0.0001221673],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001756514,0.0004668709,0.9935486,0.00002905614,0.001363143,0.0009354129,0.0002970239,0.0000154991,0.000003240918,0.0001353,0.0008587626,0.0005905618],"study_design_scores_gemma":[0.001479401,0.0003720261,0.9937629,0.00001276462,0.0008276324,0.000007009508,0.00003345081,0.00138472,9.799392e-7,0.001385245,0.0006936506,0.00004026551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767203,0.00558562,0.000003882427,0.01661871,0.0001338268,0.0006464842,0.0001222562,0.00002805901,0.0001409043],"genre_scores_gemma":[0.9976025,0.001260163,0.000004551992,0.0007248689,0.0002287609,0.00009385397,0.00002130648,0.00001252053,0.00005148122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02088224,"threshold_uncertainty_score":0.2300636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02715091693159095,"score_gpt":0.3250310894294317,"score_spread":0.2978801724978408,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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