{"id":"W3048723714","doi":"10.1093/brain/awaa206","title":"Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles","year":2020,"lang":"en","type":"article","venue":"Brain","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Vetenskapsrådet; Deutsche Forschungsgemeinschaft; California Department of Fish and Game","keywords":"Myopathy; Myofibril; Nebulin; Sarcolemma; Dystrophin; Desmin; Muscle biopsy; Biology; Myosin; Myocyte; Duchenne muscular dystrophy; Cell biology; Vacuole; Endocrinology; Pathology; Internal medicine; Sarcomere; Medicine; Genetics; Immunohistochemistry; Cytoplasm; Biopsy; Titin; Immunology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00006306529,0.0001057902,0.0002994339,0.00003136668,0.00004126016,0.000007330249,0.000025946,0.00003760175,0.00001686138],"category_scores_gemma":[0.0001588263,0.0000794998,0.00003422785,0.0002278395,0.0001071347,0.00004607888,0.00004636241,0.00004589905,0.000004890474],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007471809,"about_ca_system_score_gemma":0.00003362111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001547295,"about_ca_topic_score_gemma":0.000006926228,"domain_scores_codex":[0.9994073,0.00002536628,0.000137563,0.0001793024,0.0001435953,0.0001068882],"domain_scores_gemma":[0.9996406,0.0000543755,0.00003850758,0.0001065544,0.00007773987,0.00008222704],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008233869,0.0001305004,0.8830788,0.001459493,0.0004838685,0.0003986627,0.01759717,0.00004671467,0.07986935,0.002754008,0.005005628,0.008352382],"study_design_scores_gemma":[0.006010068,0.002843372,0.8828726,0.0004327573,0.0006381702,0.0005844712,0.005717118,0.0002671259,0.06949935,0.0001756666,0.03040834,0.0005509481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891538,0.00290844,0.0006438093,0.006601839,0.00002635268,0.0001949014,0.00002165985,0.00006029948,0.0003889051],"genre_scores_gemma":[0.9979951,0.0002434708,0.0003275931,0.001181799,0.000138895,0.000003030734,0.00001607984,0.00001945535,0.0000745142],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02540271,"threshold_uncertainty_score":0.3241908,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01291651243296023,"score_gpt":0.2243040934035815,"score_spread":0.2113875809706213,"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."}}