{"id":"W2167182675","doi":"10.1093/brain/awu012","title":"Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation","year":2014,"lang":"en","type":"article","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":98,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"National Center for Advancing Translational Sciences; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; Medical Research Council; National Institutes of Health; University College London Hospitals NHS Foundation Trust; University of Rochester; National Institute for Health and Care Research; Georgia Clinical and Translational Science Alliance","keywords":"Ataxia; Cohort; Natural history study; Medicine; Psychology; Quality of life (healthcare); Pediatrics; Internal medicine; Physical therapy; Disease; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007990059,0.0003557178,0.0004939029,0.0007909608,0.0002553268,0.0004693043,0.0002617654,0.000413704,0.001450734],"category_scores_gemma":[0.002048114,0.0001202716,0.000259358,0.0007710349,0.0002391915,0.0004736669,0.0005088802,0.0003119471,0.0002895162],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002087256,"about_ca_system_score_gemma":0.0001273319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007077222,"about_ca_topic_score_gemma":0.0005609051,"domain_scores_codex":[0.999598,0.0001113488,0.00006176259,0.00009433958,0.0000802834,0.00005429828],"domain_scores_gemma":[0.9987546,0.0002376852,0.0005636307,0.00006461926,0.0001675406,0.0002119117],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002788203,0.00006223992,0.9955727,0.00001410051,0.00004012006,0.0002084453,0.00007558878,0.00007360821,0.0005811973,0.00001278396,0.00007762064,0.003002844],"study_design_scores_gemma":[0.000006493201,0.0001520554,0.9985837,0.000002912762,0.000008508098,0.0009424551,0.00004791521,0.000130314,0.00004112018,0.00001559043,0.00006595036,0.00000297024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989254,0.0003197317,0.0001424464,0.00002285253,0.000002876996,0.00001263037,0.0002462023,0.000003646136,0.0003240953],"genre_scores_gemma":[0.9992862,0.00007338287,0.0001369681,0.00001105815,0.000008331097,0.00001020778,0.0003895364,0.000001903129,0.00008230461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001450734,"threshold_uncertainty_score":0.004853249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07232140150844882,"score_gpt":0.336685154532158,"score_spread":0.2643637530237092,"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."}}