{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005509662,0.0002715326,0.0003247001,0.0009798869,0.0002904107,0.000334571,0.0002745651,0.0003140925,0.0009984861],"category_scores_gemma":[0.001755574,0.0003156905,0.0002791101,0.0005586301,0.0002905509,0.0002324782,0.0006862784,0.0003045067,0.0004123118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003875674,"about_ca_system_score_gemma":0.0003887909,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004569906,"about_ca_topic_score_gemma":0.00456531,"domain_scores_codex":[0.9995245,0.0001404821,0.00006938374,0.0001307237,0.00006135001,0.00007365772],"domain_scores_gemma":[0.9990594,0.0002101878,0.0003955232,0.0001061388,0.00009046101,0.0001383189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00019002,0.00002742167,0.9968582,0.00001286625,0.00001250676,0.0005220043,0.0001985922,0.00005022729,0.0004849482,0.00001144283,0.0001138956,0.001517919],"study_design_scores_gemma":[0.00001578179,0.0003389859,0.9971864,0.000009154216,0.00001298953,0.001583212,0.0002742091,0.0001372854,0.0001311874,0.00001412874,0.0002901674,0.000006499519],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991505,0.00008119363,0.0001098156,0.000009505111,0.000001570052,0.00002129242,0.0004688301,0.000004292956,0.0001530059],"genre_scores_gemma":[0.9983315,0.00007093772,0.0001750671,0.00001589417,0.000005518882,0.00003547155,0.001261356,0.000002791861,0.0001015649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004569906,"threshold_uncertainty_score":0.009086609,"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."}}