{"id":"W2903823410","doi":"10.1002/mdc3.12715","title":"Dystonia in RNA Polymerase III‐Related Leukodystrophy","year":2018,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill University Health Centre; McGill University","funders":"Fonds de Recherche du Québec - Santé; Actelion Pharmaceuticals; Canadian Institutes of Health Research; bluebird bio; Gilead Sciences; Allergan; Eli Lilly and Company","keywords":"Dystonia; Leukodystrophy; Medicine; Pediatrics; Cohort; Age of onset; Physical therapy; Internal medicine; Psychiatry; Disease","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":[0.0006395771,0.0001655108,0.0001719425,0.00005182366,0.00009067857,0.00003300763,0.0001860871,0.0001871515,0.000272813],"category_scores_gemma":[0.001227918,0.000163468,0.0001381074,0.0001734107,0.0002249043,0.00002151498,0.0001157494,0.0001722894,0.0001288567],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001801192,"about_ca_system_score_gemma":0.0001095586,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001658454,"about_ca_topic_score_gemma":0.0001690105,"domain_scores_codex":[0.9980967,0.0002714271,0.0006588932,0.0004815882,0.0002149022,0.0002764843],"domain_scores_gemma":[0.998944,0.0001044082,0.0002355812,0.0004450638,0.00008875483,0.0001822329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01829278,0.01883019,0.3301541,0.00008924927,0.001600012,0.0001815998,0.0006783069,0.0006179048,0.1754223,0.01558458,0.1569691,0.2815799],"study_design_scores_gemma":[0.0232843,0.004272939,0.26994,0.00005596368,0.0002679944,0.000005468156,0.001418039,0.002960587,0.008167393,0.007175385,0.6808754,0.001576596],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.955927,0.0005811767,0.001161408,0.006075565,0.0005729311,0.0003640165,0.000006962465,0.00002852122,0.03528239],"genre_scores_gemma":[0.9851863,0.000290052,0.000604027,0.01138446,0.0002283916,0.00001916368,0.00006330018,0.00002311197,0.00220115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5239063,"threshold_uncertainty_score":0.6666033,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0128372841829062,"score_gpt":0.3420218102288684,"score_spread":0.3291845260459622,"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."}}