{"id":"W2422560353","doi":"10.1212/wnl.0000000000002845","title":"Disease burden and functional outcomes in congenital myotonic dystrophy","year":2016,"lang":"en","type":"article","venue":"Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research; National Institutes of Health; aTyr; Acceleron; PTC Therapeutics; Ionis Pharmaceuticals; Valerion Therapeutics; Cure SMA; Biogen; Muscular Dystrophy Association; Pfizer; National Institute of Neurological Disorders and Stroke; Parent Project Muscular Dystrophy; Eli Lilly and Company","keywords":"Medicine; Myotonic dystrophy; Physical therapy; Quality of life (healthcare); Cohort; Grip strength; Physical medicine and rehabilitation; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00002932902,0.0001461611,0.000148393,0.0001094912,0.00005506706,0.00001558776,0.0001164833,0.00003740307,0.0001946126],"category_scores_gemma":[0.0005688011,0.0001024336,0.00004205557,0.00008254481,0.0002894819,0.00008077097,0.0001130891,0.00008777902,0.000113695],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007504019,"about_ca_system_score_gemma":0.00004932052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007575996,"about_ca_topic_score_gemma":0.0000132555,"domain_scores_codex":[0.9986093,0.000232973,0.0001573872,0.0005602983,0.0001570316,0.0002830324],"domain_scores_gemma":[0.9991361,0.0004163847,0.000038699,0.0002204645,0.00001727435,0.0001710057],"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":[0.0005697116,0.00007289174,0.3236017,0.000004491777,0.000003795335,0.0003013457,0.00001770852,0.00005243074,0.6714337,0.002476088,0.00007900018,0.001387105],"study_design_scores_gemma":[0.001225834,0.0002638202,0.9720104,0.00000138639,0.00001051997,0.00002381586,8.853153e-7,0.00008717654,0.02378286,0.001309261,0.001147815,0.0001362667],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915026,0.00003330589,0.00003787559,0.007619853,0.0003564329,0.0001828848,0.00005475983,0.00004080618,0.0001714265],"genre_scores_gemma":[0.9968387,0.00002653157,0.000006135301,0.002663958,0.0000826019,0.0000518305,7.758631e-7,0.0000169931,0.0003124932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6484087,"threshold_uncertainty_score":0.4177123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02070149496852453,"score_gpt":0.2429611794333844,"score_spread":0.2222596844648599,"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."}}