{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002191835,0.0001431813,0.0003437467,0.0001162038,0.00004885075,0.000005321877,0.0002746634,0.00008271811,0.00002860806],"category_scores_gemma":[0.001288103,0.0001346649,0.00005513159,0.0002548808,0.0004686129,0.00003455723,0.0001879959,0.0001666367,0.00000880207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":4.754764e-7,"about_ca_system_score_gemma":0.000039675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001135192,"about_ca_topic_score_gemma":0.00002141609,"domain_scores_codex":[0.9977045,0.0006331995,0.0006086879,0.0005494719,0.0002212638,0.0002828433],"domain_scores_gemma":[0.9982898,0.0007431398,0.0002885156,0.0003881459,0.0001573277,0.0001330756],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000911855,0.001437594,0.7076734,0.0000227283,0.00002118706,0.0004122957,0.0002714442,0.0001197736,0.2841552,0.0001421659,0.0006556755,0.004176736],"study_design_scores_gemma":[0.0004848335,0.005022597,0.7204777,0.000001907686,0.00001831531,0.00003508641,0.00002505631,0.00002676654,0.2732655,0.0002054858,0.0003558813,0.00008090677],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986311,0.000140135,0.00001133372,0.0003473211,0.000325878,0.0002882902,0.00001063715,0.00001686085,0.0002284924],"genre_scores_gemma":[0.9972017,0.0002258588,0.00005021377,0.002407972,0.00006152652,0.000002413215,4.437902e-7,0.00001786601,0.00003205038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01280433,"threshold_uncertainty_score":0.5491477,"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."}}