{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001120548,0.0008182407,0.0005798858,0.001243001,0.001156122,0.001111908,0.0005743295,0.0009868499,0.002252724],"category_scores_gemma":[0.002538015,0.0003875856,0.0005069335,0.001824002,0.0004047084,0.0003777636,0.000789688,0.0006819993,0.0002782453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003475431,"about_ca_system_score_gemma":0.0003874587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009050293,"about_ca_topic_score_gemma":0.008866417,"domain_scores_codex":[0.9993159,0.0001822561,0.00006527799,0.0002022901,0.0001340791,0.0001001348],"domain_scores_gemma":[0.9985456,0.0002830401,0.0004515735,0.0001448299,0.0001889278,0.0003859317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001143097,0.0001202551,0.994202,0.0000198087,0.0003557631,0.0008122758,0.0002939492,0.0001307003,0.001271556,0.00008858904,0.0004465112,0.00111565],"study_design_scores_gemma":[0.0001624562,0.0001755176,0.9964259,0.00001719968,0.0003086958,0.001339125,0.000204768,0.0005497344,0.0002059965,0.00009807325,0.0004947895,0.00001768335],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984786,0.000178072,0.0001397341,0.0000572299,0.000009162723,0.0000181536,0.0005487532,0.000005098403,0.0005652987],"genre_scores_gemma":[0.9988539,0.00006161299,0.0002286188,0.00003352352,0.00002805706,0.00002324714,0.0005637464,0.000005393833,0.0002018009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009050293,"threshold_uncertainty_score":0.01799518,"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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