{"id":"W2029609583","doi":"10.1007/s00415-014-7488-3","title":"SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype","year":2014,"lang":"en","type":"article","venue":"Journal of Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":75,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Thomas Hospital","funders":"Medical Research Council; Academy of Medical Sciences; Wellcome Trust","keywords":"Dystonia; Myoclonus; Proband; Age of onset; Short stature; Movement disorders; Genetics; Psychology; Mutation; Medicine; Pediatrics; Biology; Internal medicine; Psychiatry; Gene","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":[0.0002256352,0.0001064032,0.0005404603,0.00007067763,0.00002428088,0.000005610797,0.00005277896,0.0001254594,0.00002976383],"category_scores_gemma":[0.00194734,0.00007310505,0.00007555805,0.00003182942,0.0002268165,0.00003270984,0.00004560594,0.0002957711,0.000001914891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002456432,"about_ca_system_score_gemma":0.00002090594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003413787,"about_ca_topic_score_gemma":0.000001024727,"domain_scores_codex":[0.998876,0.0001774712,0.0005478149,0.0001540837,0.0001079981,0.0001366409],"domain_scores_gemma":[0.9983311,0.0009478599,0.0003294404,0.0001103568,0.00009905243,0.0001821387],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001493764,0.0003881448,0.9896568,0.00004094664,0.0001101344,0.0006470067,0.00002305252,1.097575e-7,0.001282212,0.00003456717,0.0004068328,0.005916394],"study_design_scores_gemma":[0.002218235,0.0153515,0.9786394,0.00001414539,0.0002792201,0.0007366803,0.000001219283,0.0000759947,0.00001866833,0.0004880436,0.002135783,0.00004113238],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957459,0.0003649773,0.00003329839,0.003122729,0.0005427631,0.0001085755,0.000007532949,0.000005427376,0.00006879924],"genre_scores_gemma":[0.99533,0.001375673,0.0001060238,0.002895563,0.0002634123,8.917455e-7,0.000001191266,0.00001086357,0.00001638332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01496335,"threshold_uncertainty_score":0.2981137,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01672896170852977,"score_gpt":0.3005756241395063,"score_spread":0.2838466624309765,"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."}}