{"id":"W3015277181","doi":"10.1016/j.neurobiolaging.2020.03.021","title":"Variants in the Niemann–Pick type C gene NPC1 are not associated with Parkinson's disease","year":2020,"lang":"en","type":"article","venue":"Neurobiology of Aging","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Ontario Brain Institute; University of Calgary; McGill University; Centre Hospitalier de l’Université de Montréal; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Canada First Research Excellence Fund; Canadian Institutes of Health Research; Parkinson Canada; Consortium canadien en neurodégénérescence associée au vieillissement; Parkinson's Foundation; Brookdale Foundation; National Center for Advancing Translational Sciences; Michael J. Fox Foundation for Parkinson's Research","keywords":"NPC1; Niemann–Pick disease; Genetic association; Compound heterozygosity; Biology; Parkinson's disease; Gene; Niemann–Pick disease, type C; Genetics; Disease; Genotype; Medicine; Mutation; Single-nucleotide polymorphism; 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":[0.0004468347,0.001115396,0.000682875,0.001350365,0.001046994,0.000773208,0.0009495853,0.001889568,0.006097331],"category_scores_gemma":[0.003466749,0.0003294302,0.0006179028,0.001157001,0.0007285266,0.000461066,0.0003765532,0.0006710607,0.001029848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003044992,"about_ca_system_score_gemma":0.0002828133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003185718,"about_ca_topic_score_gemma":0.003036984,"domain_scores_codex":[0.9994029,0.0001064719,0.0001006841,0.0001732431,0.0001372239,0.00007944426],"domain_scores_gemma":[0.9977338,0.0009353678,0.0006021099,0.0001664566,0.0002246164,0.0003377347],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01357389,0.000443367,0.7821416,0.0004430193,0.001575195,0.06335779,0.001796887,0.001633354,0.1107684,0.002186561,0.003066322,0.01901364],"study_design_scores_gemma":[0.0003000563,0.0008520884,0.9003142,0.0001870798,0.00104764,0.07430362,0.00063967,0.002622017,0.01118531,0.001862244,0.006570234,0.0001158443],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964851,0.0006328851,0.0002989935,0.0001368426,0.00006995024,0.000009015615,0.0005861305,0.00001982417,0.001761324],"genre_scores_gemma":[0.9987556,0.0001026475,0.0001440097,0.00004017921,0.00003487739,0.00000351689,0.0003591359,0.00001188653,0.0005481971],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006097331,"threshold_uncertainty_score":0.02039754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04190805991772613,"score_gpt":0.2799570316938647,"score_spread":0.2380489717761386,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}