{"id":"W2755041685","doi":"10.1002/ana.25048","title":"<i>DNAJC12</i> and dopa‐responsive nonprogressive parkinsonism","year":2017,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Advanced biosensing and bioanalysis techniques","field":"Biochemistry, Genetics and Molecular Biology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal University Hospital; University of Saskatchewan; British Columbia Centre of Excellence for Women's Health; University of British Columbia","funders":"Fondazione Cariplo; Canada Excellence Research Chairs, Government of Canada; Leading Edge Endowment Fund; Parkinson's UK","keywords":"Parkinsonism; Levodopa; Proband; Dystonia; Substantia nigra; Dyskinesia; Compound heterozygosity; Pediatrics; Medicine; Neuropathology; Hyperphenylalaninemia; Disease; Psychology; Psychiatry; Neuroscience; Internal medicine; Mutation; Parkinson's disease; Genetics; Biology","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":[0.0002142721,0.001409417,0.0004254978,0.00141041,0.000701136,0.0004209095,0.0004238545,0.001176109,0.001702462],"category_scores_gemma":[0.00101051,0.0004768764,0.0002885044,0.0006889294,0.000777735,0.0002766665,0.0004332154,0.0005316528,0.0003646269],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004008264,"about_ca_system_score_gemma":0.0002210979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002029042,"about_ca_topic_score_gemma":0.002628388,"domain_scores_codex":[0.9995502,0.00005277465,0.00007284173,0.0001586794,0.0001018487,0.0000637221],"domain_scores_gemma":[0.9993725,0.0002053187,0.0002448417,0.00002644525,0.00003780099,0.0001130743],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001114956,0.0001853039,0.3816629,0.0002222244,0.0001536249,0.4726204,0.001278012,0.0002647555,0.1302969,0.0004855445,0.0007920882,0.01092334],"study_design_scores_gemma":[0.00005870097,0.0002932327,0.3497678,0.00003950943,0.000123335,0.6324933,0.0002888268,0.0003871247,0.01497898,0.0002274032,0.001318442,0.0000234571],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981951,0.0005018004,0.0002804402,0.0000833961,0.000009856247,0.00001143616,0.0001233025,0.00002798349,0.0007667003],"genre_scores_gemma":[0.9992092,0.0001956593,0.0002379604,0.00003868338,0.00001908279,0.000004706676,0.00007080832,0.000009376747,0.0002144782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002029042,"threshold_uncertainty_score":0.005695283,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03170458646582525,"score_gpt":0.3445756916583417,"score_spread":0.3128711051925164,"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."}}