{"id":"W3018147106","doi":"10.1002/ana.25751","title":"Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients","year":2020,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"H2020 European Research Council; Hersenstichting; Medical Research Council; Volkswagen Foundation; National Institutes of Health; Universiteit Antwerpen; Ministero della Salute; Koç Üniversitesi; National Institute of General Medical Sciences; Bundesministerium für Bildung und Forschung; Eberhard Karls Universität Tübingen; Actelion Pharmaceuticals; Erciyes Üniversitesi; Deutsche Forschungsgemeinschaft; European Commission; Wellcome Trust; Agence Nationale de la Recherche; Vlaamse regering; E-Rare; ZonMw; Newton Fund; Fonds Wetenschappelijk Onderzoek; Radboud Universiteit; University of Kentucky; National Science Foundation","keywords":"Ataxia; Missense mutation; Atrophy; Cohort; Medicine; Magnetic resonance imaging; Hyperintensity; Neuroimaging; Dystonia; Pediatrics; Internal medicine; Psychology; Pathology; Psychiatry; Genetics; Phenotype; Biology; Radiology","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":[0.0005593434,0.0007013996,0.0005711597,0.0005586021,0.0009411626,0.0004878831,0.0003277667,0.000432497,0.001319394],"category_scores_gemma":[0.001106306,0.0003610718,0.000422984,0.000444309,0.0004972327,0.0003324081,0.0005730931,0.0003205753,0.0004210205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003160416,"about_ca_system_score_gemma":0.0002391176,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001314522,"about_ca_topic_score_gemma":0.0009027623,"domain_scores_codex":[0.9995332,0.00007912758,0.00005196668,0.0002289687,0.00004840769,0.00005840096],"domain_scores_gemma":[0.9993272,0.00009275305,0.0002512662,0.00008238282,0.0000650677,0.000181441],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007163035,0.0001723781,0.9895671,0.00001310301,0.0001018176,0.001044196,0.0002498806,0.00008549797,0.005138224,0.00002405129,0.0001390022,0.002748515],"study_design_scores_gemma":[0.0001621547,0.001088942,0.9905657,0.000009791403,0.0001036847,0.006381303,0.0001833502,0.0002854174,0.0007962689,0.00003337897,0.000379485,0.00001056142],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999709,0.00004593604,0.00006756515,0.000007442454,8.884549e-7,0.00001041866,0.00007164349,0.000002533419,0.00008466732],"genre_scores_gemma":[0.9994994,0.00003104435,0.00009523109,0.00001327165,0.000006939944,0.00001326712,0.0002758698,0.000002813014,0.00006209531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001319394,"threshold_uncertainty_score":0.004413843,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02099886797450006,"score_gpt":0.287685894481097,"score_spread":0.2666870265065969,"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."}}