{"id":"W4317870343","doi":"10.1002/mds.29288","title":"Embracing Monogenic Parkinson's Disease: The <scp>MJFF</scp> Global Genetic <scp>PD</scp> Cohort","year":2023,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Toronto Western Hospital; University of Toronto; Pacific Centre for Reproductive Medicine","funders":"National Institute of Neurological Disorders and Stroke; Faculty of Medicine and Health, University of Sydney; Department of Medicine, University of Toronto; Instituto de Salud Carlos III; Irving Medical Center, Columbia University; National Institutes of Health; Fleni; Szegedi Tudományegyetem; Parkinson Vereniging; Turun Yliopistollinen Keskussairaala; Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu; Sorbonne Université; Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi; Universiteit Antwerpen; Universidade do Porto; Chang Gung Memorial Hospital, Linkou; Universidade de Lisboa; National Taiwan University Hospital; Turun Yliopisto; Medical Research Council; Sociedade Beneficente Israelita Brasileira Albert Einstein; Zhejiang University; European Regional Development Fund; Universitat de Barcelona; Centre National de la Recherche Scientifique; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Universitetet i Oslo; Universität zu Lübeck; National and Kapodistrian University of Athens; Mahidol University; University of Alberta; University of Toronto; Sagol School of Neuroscience, Tel Aviv University; Hebrew University of Jerusalem; Università degli Studi di Milano-Bicocca; Erasmus Universiteit Rotterdam; Ministry of Science and Technology, Taiwan; Consejo Nacional de Investigaciones Científicas y Técnicas; Karolinska Institutet; Chang Gung University; Banaras Hindu University; Japan Society for the Promotion of Science; King Faisal Specialist Hospital and Research Centre; University of Ulsan; National Science Council; National Taiwan University; Griffith University; Assistance Publique - Hôpitaux de Paris; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; National Health and Medical Research Council; Universiti Malaya; Sydney Medical School; H. Lundbeck A/S; Department of Science and Technology, Ministry of Science and Technology, India; Università degli Studi di Pavia; NorthShore University HealthSystem; Department of Health and Social Care; Chang Gung Medical Foundation; National Research Foundation; National Institute for Health and Care Research; National Taiwan Normal University; European Commission; University of Tokyo; Radboud Universiteit; North-West University; University of Dundee; Parkinson's Disease Foundation; University College Dublin; National Medical Research Council; Hadassah Medical Organization; University College London; GlaxoSmithKline; Universidad de Sevilla; Universitätsmedizin Göttingen; NIHR Cambridge Biomedical Research Centre; International Business Machines Corporation; Michael J. Fox Foundation for Parkinson's Research; Parkinson's Foundation; EU Joint Programme – Neurodegenerative Disease Research; Université du Luxembourg; Japan Agency for Medical Research and Development; NHS Education for Scotland; Universiteit Stellenbosch; Parkinsonfonden; Singapore General Hospital","keywords":"Parkinson's disease; Cohort; Disease; Medicine; Neuroscience; Genetics; Psychology; Biology; Internal medicine","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":[0.001504604,0.0003179441,0.0003820678,0.001415349,0.0009603103,0.000630199,0.0003967792,0.0004292747,0.002138907],"category_scores_gemma":[0.001938586,0.0001994104,0.0003736816,0.001771286,0.0003583388,0.000510726,0.001390682,0.0004724624,0.0006429459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000475541,"about_ca_system_score_gemma":0.0009657687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02538334,"about_ca_topic_score_gemma":0.04685523,"domain_scores_codex":[0.9994817,0.00008225557,0.00005700139,0.0001744983,0.0001043654,0.0001001554],"domain_scores_gemma":[0.9988509,0.00009639771,0.0003371877,0.000185946,0.0001868895,0.0003425922],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001047384,0.00002058426,0.9946515,0.00002635347,0.00005087653,0.000295726,0.0002788478,0.00003034314,0.0003169477,0.00006576639,0.001123169,0.003035236],"study_design_scores_gemma":[0.00001154356,0.00005762627,0.9966372,0.00002481443,0.00004213801,0.0007932205,0.0002671721,0.00004473461,0.00005307505,0.00006874411,0.001993961,0.000005653833],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886377,0.0005604358,0.0005214048,0.0002221564,0.00001229513,0.0001734855,0.008166017,0.00001681263,0.001689638],"genre_scores_gemma":[0.9821071,0.0005684397,0.001008949,0.0005129664,0.00003584826,0.0003041777,0.01467978,0.00002188925,0.0007608901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02538334,"threshold_uncertainty_score":0.05047119,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01108876072922212,"score_gpt":0.2498553826713558,"score_spread":0.2387666219421337,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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