{"id":"W2917598617","doi":"10.1002/mds.27642","title":"<i>SMPD1</i> mutations, activity, and α‐synuclein accumulation in Parkinson's disease","year":2019,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; National Institutes of Health; Consortium canadien en neurodégénérescence associée au vieillissement; Parkinson's Disease Foundation; Brookdale Foundation; National Center for Advancing Translational Sciences; Fonds de Recherche du Québec - Santé; Michael J. Fox Foundation for Parkinson's Research","keywords":"Acid sphingomyelinase; Sphingomyelin; Cohort; Mutation; Medicine; Genetics; Biology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001052713,0.00009698627,0.00008248544,0.00004806983,0.00003410908,0.00002481654,0.00006039374,0.00004147818,0.00002840158],"category_scores_gemma":[0.00002289377,0.0001022191,0.0000331294,0.00006528288,0.00002054191,0.00001045931,0.00005995943,0.00004098396,0.000006385802],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008341214,"about_ca_system_score_gemma":0.0000215768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001056629,"about_ca_topic_score_gemma":0.0001295456,"domain_scores_codex":[0.9993697,0.00003156643,0.00009859703,0.0002544147,0.00009628891,0.0001493686],"domain_scores_gemma":[0.9997267,0.000008239392,0.00003927973,0.0001605729,0.00001023491,0.0000550015],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001460052,0.0001270681,0.6495579,0.00003752465,0.00002033228,7.246229e-7,0.00008485489,0.002858188,0.3388472,0.0003191584,0.0003260215,0.007675046],"study_design_scores_gemma":[0.002280125,0.00007684501,0.9364326,0.00002239669,0.00002117236,5.396378e-8,0.000229685,0.004044527,0.0240973,0.003525133,0.02891455,0.0003555912],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979275,0.0005724627,0.0003151,0.0004136599,0.00009755161,0.0002641105,0.000008042478,0.000008266014,0.0003932548],"genre_scores_gemma":[0.9982332,0.0003007264,0.00007866508,0.001091995,0.00003821589,0.00002389823,0.00006055298,0.00001359628,0.0001591212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3147499,"threshold_uncertainty_score":0.4168372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007959192506835607,"score_gpt":0.2473658358587283,"score_spread":0.2394066433518927,"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."}}