{"id":"W2099884882","doi":"10.1136/jnnp-2012-302402","title":"A clinical and family history study of Parkinson's disease in heterozygous<i>glucocerebrosidase</i>mutation carriers","year":2012,"lang":"en","type":"letter","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":112,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Parkinson's UK; Wellcome Trust","keywords":"Glucocerebrosidase; Family history; Mutation; Disease; Heterozygote advantage; Parkinson's disease; Genetics; Medicine; Internal medicine; Biology; Gene; Genotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002711195,0.0005854292,0.0003632577,0.001494187,0.001196847,0.0004075603,0.0002547352,0.0005035657,0.002652068],"category_scores_gemma":[0.002069678,0.0003362753,0.0002565462,0.000822413,0.0003618026,0.0003460187,0.0003341349,0.0003281954,0.0003400717],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003873009,"about_ca_system_score_gemma":0.0002998058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006766383,"about_ca_topic_score_gemma":0.004178607,"domain_scores_codex":[0.9997008,0.0000702203,0.00003064574,0.0001100617,0.00005007833,0.00003823867],"domain_scores_gemma":[0.9990597,0.0002523258,0.0001789575,0.00004524025,0.00009467822,0.0003690457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000399263,0.0002603036,0.9803967,0.00001518962,0.00003848801,0.01263665,0.0006826368,0.00006027193,0.002543275,0.00005629321,0.0002532176,0.002657576],"study_design_scores_gemma":[0.00001870715,0.0004674968,0.9714685,0.000008756432,0.00003292507,0.02665012,0.0003659084,0.000223185,0.0002424768,0.00004803859,0.0004610159,0.00001278678],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990358,0.0001072734,0.00006087189,0.00003082858,0.000003930096,0.00001078349,0.0001659876,0.000004414283,0.0005801498],"genre_scores_gemma":[0.9992619,0.00008193906,0.0001276552,0.00004070526,0.00001060991,0.00001027363,0.0002071895,0.000003226422,0.0002564397],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006766383,"threshold_uncertainty_score":0.01345396,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0363780518232235,"score_gpt":0.3110989839243395,"score_spread":0.274720932101116,"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."}}