{"id":"W2341818933","doi":"10.1212/nxg.0000000000000069","title":"Clinical and genetic features of cervical dystonia in a large multicenter cohort","year":2016,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Botulinum Toxin and Related Neurological Disorders","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Dystonia Coalition; National Institute of Neurological Disorders and Stroke; Parkinsonfonden; Health Science Center, University of Tennessee; St. Jude Medical; National Institutes of Health; University of Toronto; Omeros Corporation; Spastic Paraplegia Foundation; Adamas Pharmaceuticals; Ipsen; Prothena; Psyadon Pharmaceuticals; ACADIA Pharmaceuticals; Parkinson Study Group; Merz Pharmaceuticals; Ultragenyx Pharmaceutical; Medical University of South Carolina; University of Louisville; University of Missouri; Pfizer; National Parkinson Foundation; University of Rochester; UCB Pharma; Michael J. Fox Foundation for Parkinson's Research; Emory University; CHDI Foundation; Medtronic; American Parkinson Disease Association; Dystonia Medical Research Foundation; Parkinson's Disease Foundation; National Center for Advancing Translational Sciences; Teva Pharmaceutical Industries; University of South Carolina; US WorldMeds; Mayo Clinic; University of Michigan; Acorda Therapeutics; Dana Foundation; Ipsen Biopharmaceuticals; Alberta Innovates; Neurocrine Biosciences; Benign Essential Blepharospasm Research Foundation; Allergan; International Parkinson and Movement Disorder Society; H. Lundbeck A/S; American Academy of Neurology","keywords":"Cervical dystonia; Dystonia; Medicine; Missense mutation; Cohort; Internal medicine; Pediatrics; Genetics; Biology; Mutation; Psychiatry; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001302083,0.0001380412,0.0003878444,0.00007644302,0.00001769302,0.000001988955,0.00009110502,0.000481746,0.00008207688],"category_scores_gemma":[0.0001547298,0.00008372717,0.00008154909,0.00009067124,0.0004594528,0.000008664471,0.0001046867,0.0004173793,0.00001657648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002464071,"about_ca_system_score_gemma":0.00002451341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002675013,"about_ca_topic_score_gemma":0.00002635889,"domain_scores_codex":[0.9985062,0.0002136047,0.0004537758,0.0003953778,0.000124897,0.000306085],"domain_scores_gemma":[0.9992329,0.000251675,0.00006953984,0.0002639674,0.00003746838,0.0001444618],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006260695,0.0003362251,0.9876962,0.00001970749,0.00003229585,0.0002471187,0.00001748544,0.000002062062,0.003954704,0.00004125593,0.0001330342,0.0068938],"study_design_scores_gemma":[0.004531075,0.001410943,0.9910989,0.00001453419,0.00007249445,0.0001542006,0.000001696612,0.0001992635,0.0002545554,0.0002256848,0.001958939,0.00007764753],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921401,0.0008837652,0.00005614583,0.006003323,0.0001993774,0.0003216035,0.000006784092,0.00002270664,0.0003661744],"genre_scores_gemma":[0.9895547,0.004509163,0.0003818247,0.005398302,0.00004615099,0.000007042146,0.00000122137,0.00001836565,0.00008325429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006816152,"threshold_uncertainty_score":0.3715666,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01375326261769945,"score_gpt":0.2972990635314182,"score_spread":0.2835458009137188,"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."}}