{"id":"W127149141","doi":"10.1212/wnl.80.7_supplement.s43.003","title":"Autosomal Dominant Cerebellar Ataxia with Deafness and Narcolepsy (ADCA-DN): An Emerging Syndrome Caused by DNMT1 Mutations (S43.003)","year":2013,"lang":"en","type":"article","venue":"Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"","keywords":"Narcolepsy; Ataxia; Cerebellar ataxia; Medicine; Genetics; Biology; Psychiatry; Neurology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001114499,0.0005828656,0.0003178232,0.0003224009,0.0002102594,0.0001981001,0.0002196309,0.0005731311,0.0009972469],"category_scores_gemma":[0.0002011056,0.0001127306,0.0002409489,0.000295978,0.0003028533,0.0001988084,0.0002802505,0.0002909881,0.0002779748],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003518082,"about_ca_system_score_gemma":0.0003957694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00233612,"about_ca_topic_score_gemma":0.007806831,"domain_scores_codex":[0.9999304,0.000008447615,0.00001384035,0.00001702375,0.00001994735,0.00001044075],"domain_scores_gemma":[0.9998915,0.00001608128,0.00004221811,0.000005183606,0.00001363,0.00003143314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004397881,0.0001088791,0.04983888,0.0004206871,0.00009568834,0.1104113,0.0003747311,0.0003159327,0.8182591,0.0007844198,0.000702178,0.01824845],"study_design_scores_gemma":[0.0002638454,0.0008036887,0.3293688,0.0001748837,0.0003570912,0.520579,0.0005078861,0.00205197,0.1283001,0.001074451,0.01646344,0.00005490821],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992824,0.002831202,0.00122331,0.0002766481,0.00001992188,0.00004388118,0.0004148048,0.00005166666,0.002314629],"genre_scores_gemma":[0.9944741,0.001756247,0.002555153,0.0001158691,0.00002259666,0.00001466916,0.0003151805,0.00001044537,0.0007355508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00233612,"threshold_uncertainty_score":0.004645109,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01433306732798625,"score_gpt":0.2462514115693135,"score_spread":0.2319183442413273,"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."}}