{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004541364,0.0002937423,0.000312931,0.0009255987,0.0003146776,0.0003804631,0.0002885751,0.0002998724,0.0019057],"category_scores_gemma":[0.001765733,0.0001350891,0.0001950723,0.000707166,0.0002838782,0.0002598854,0.0003865901,0.0001752444,0.0002418779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002244437,"about_ca_system_score_gemma":0.00025412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001807914,"about_ca_topic_score_gemma":0.001969463,"domain_scores_codex":[0.9996635,0.00005793348,0.00006705024,0.0001085192,0.00006341957,0.00003953532],"domain_scores_gemma":[0.9991185,0.0001717569,0.0005290827,0.00003244101,0.00006958798,0.00007869664],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0002314225,0.00003079204,0.9805207,0.00007909713,0.00004343894,0.007608555,0.0002541184,0.00007537956,0.005227072,0.00004501621,0.000193002,0.005691449],"study_design_scores_gemma":[0.00001279341,0.0002062147,0.9643996,0.00003520765,0.00003854271,0.0340435,0.00016876,0.0001387078,0.000589792,0.00002802147,0.0003336594,0.000005232097],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984618,0.0005908684,0.0001527641,0.00002034166,0.000002243815,0.00001854868,0.0002689034,0.00001014529,0.0004743588],"genre_scores_gemma":[0.999136,0.0002371412,0.0001613895,0.00002435976,0.000004872444,0.000007925232,0.000312785,0.000004082969,0.0001115044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0019057,"threshold_uncertainty_score":0.006375253,"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."}}