{"id":"W1979689810","doi":"10.1002/ana.21143","title":"Clinical and genetic study of autosomal recessive cerebellar ataxia type 1","year":2007,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":94,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Université Laval; Hôpital de l'Enfant-Jésus; Université de Montréal; Centre hospitalier universitaire de Québec","funders":"","keywords":"Cerebellar ataxia; Ataxia; Dysarthria; Proband; Spinocerebellar ataxia; Population; Medicine; Age of onset; Genetics; Pathology; Mutation; Disease; Biology; Audiology; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003200172,0.001439582,0.0005184023,0.001582927,0.001815826,0.0004393127,0.0006446169,0.0005694871,0.002300053],"category_scores_gemma":[0.001370172,0.0002359839,0.0002708454,0.001433991,0.0008858007,0.0001901388,0.0004804907,0.0003323022,0.0002338233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0025871,"about_ca_system_score_gemma":0.004096461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3275512,"about_ca_topic_score_gemma":0.323452,"domain_scores_codex":[0.9993811,0.00006203125,0.0000442187,0.0001822072,0.0001983537,0.0001321308],"domain_scores_gemma":[0.9994026,0.00008221534,0.00014775,0.00001965168,0.0001794711,0.0001683462],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000682638,0.0002622126,0.8889191,0.0001656344,0.0002221152,0.05837743,0.002267161,0.0006875276,0.03028678,0.0005750397,0.002067494,0.0154868],"study_design_scores_gemma":[0.00006706775,0.0003040637,0.9179378,0.00004636353,0.0001200546,0.07606623,0.0007039934,0.0005776645,0.001565528,0.0001009751,0.002477646,0.00003272533],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973949,0.0003559237,0.000214915,0.00009066222,0.000005473829,0.00005018565,0.0003690299,0.0000165371,0.001502443],"genre_scores_gemma":[0.9983242,0.0001492004,0.0004495237,0.00005627131,0.00001177323,0.0000147501,0.0004061304,0.000005952394,0.0005822226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3275512,"threshold_uncertainty_score":0.6512893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1259329039591054,"score_gpt":0.3976961763949664,"score_spread":0.271763272435861,"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."}}