{"id":"W4392195425","doi":"10.1007/s00415-024-12188-5","title":"5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2","year":2024,"lang":"en","type":"article","venue":"Journal of Neurology","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Novartis Pharma; Muscular Dystrophy Canada; Roche Deutschland; Canadian Institutes of Health Research; Albert-Ludwigs-Universität Freiburg; Biogen","keywords":"Medicine; Retrospective cohort study; Pediatrics; Natural history; Disease; Age of onset; SMA*; Scoliosis; Internal medicine; Surgery","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":[0.0002087787,0.00009078819,0.0003576162,0.0003225469,0.00001086328,0.000004434859,0.00007858908,0.00005080263,0.00007109701],"category_scores_gemma":[0.00008739405,0.0000622782,0.0001028205,0.0001403874,0.0001323881,0.00004921594,0.00002874972,0.0007484765,8.773298e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001528439,"about_ca_system_score_gemma":0.0005477908,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000533409,"about_ca_topic_score_gemma":0.00001439765,"domain_scores_codex":[0.9987538,0.0001169432,0.0003097263,0.0001412377,0.0005105642,0.0001677644],"domain_scores_gemma":[0.9993424,0.00007044634,0.0001177492,0.0001112057,0.000290414,0.00006782458],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00335582,0.0004331426,0.9804746,0.0002201988,0.0003188486,0.002612041,0.0003523279,0.00002244702,0.004054555,0.0001799504,0.004587782,0.003388266],"study_design_scores_gemma":[0.003131715,0.005171091,0.9797648,0.00006410207,0.00007899628,0.0002262946,0.00002454016,0.00009597995,0.00009924031,0.00009756329,0.0111964,0.00004927765],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945427,0.002566275,0.00005533874,0.001395755,0.0004444908,0.0001969762,0.000003748655,0.000005413724,0.0007892608],"genre_scores_gemma":[0.999283,0.000143374,0.0001366177,0.0002643465,0.00006211948,0.000002328525,0.00000154558,0.0000167235,0.00008996352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006608618,"threshold_uncertainty_score":0.32518,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01168096937856821,"score_gpt":0.2871626963989602,"score_spread":0.275481727020392,"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."}}