{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005639669,0.0005083214,0.0004040241,0.0007534864,0.001165972,0.0006980164,0.0005838625,0.0007236331,0.002634516],"category_scores_gemma":[0.00191657,0.0003024637,0.0003541347,0.0006744418,0.0002951799,0.0004339377,0.0007044338,0.0003896061,0.0004550005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000395881,"about_ca_system_score_gemma":0.0003883044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01022761,"about_ca_topic_score_gemma":0.01348414,"domain_scores_codex":[0.9995261,0.00008755906,0.00003794113,0.0002084383,0.00007600294,0.00006392575],"domain_scores_gemma":[0.9995034,0.00005567191,0.0001699022,0.00006571125,0.00007657641,0.0001287279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002428028,0.00006339587,0.9956049,0.00001050016,0.00006308269,0.0006357954,0.0001923582,0.00002375339,0.001203372,0.00002305653,0.0004181696,0.001518889],"study_design_scores_gemma":[0.00004086306,0.0001583015,0.9958258,0.00001447021,0.00004476273,0.002691861,0.0004394593,0.0001337195,0.00007027602,0.00002862111,0.0005450976,0.000006810615],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988725,0.0001167699,0.0000551271,0.00004309403,0.000004372866,0.00002602431,0.0004933744,0.000003815912,0.0003849499],"genre_scores_gemma":[0.998517,0.0001076065,0.0001674675,0.00006915567,0.00001451207,0.00005141395,0.0008004083,0.000004676347,0.0002678104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01022761,"threshold_uncertainty_score":0.02033615,"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."}}