{"id":"W2003682085","doi":"10.1016/j.nmd.2007.06.435","title":"G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1","year":2007,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Université Laval","funders":"","keywords":"Cerebellar ataxia; Dysarthria; Ataxia; Proband; Founder effect; Population; Medicine; Spinocerebellar ataxia; Age of onset; Genetics; Pathology; Genotype; Pediatrics; Disease; Mutation; Haplotype; Biology; Audiology","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":[0.0004326777,0.002025684,0.0006446403,0.002045941,0.001539246,0.0005266204,0.001070801,0.002575645,0.0114053],"category_scores_gemma":[0.001990749,0.0003662348,0.0004119117,0.0009154545,0.000944099,0.0004954486,0.0006931713,0.0009561194,0.00230309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004002939,"about_ca_system_score_gemma":0.0006172527,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005398424,"about_ca_topic_score_gemma":0.001871258,"domain_scores_codex":[0.9995747,0.0001256749,0.00003633605,0.0001165073,0.00007707843,0.00006965176],"domain_scores_gemma":[0.999166,0.0002593362,0.0001357436,0.00003127507,0.0001566587,0.0002509314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00322893,0.001516921,0.1884374,0.0002206533,0.0001843703,0.7213261,0.001770688,0.0006806346,0.04593257,0.003818524,0.009615798,0.02326751],"study_design_scores_gemma":[0.000641629,0.00402556,0.4003401,0.0002667101,0.0003480224,0.5586231,0.0008715305,0.002589791,0.01132942,0.002351226,0.01848245,0.0001303673],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9737864,0.0009110712,0.001104409,0.002191767,0.0002873834,0.0002769409,0.001788507,0.0001092719,0.01954421],"genre_scores_gemma":[0.9908406,0.0003224621,0.001130185,0.0005517517,0.0003192529,0.0001071953,0.0006847373,0.00007489799,0.005968957],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0114053,"threshold_uncertainty_score":0.03815448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04062411396574418,"score_gpt":0.3237481853247962,"score_spread":0.283124071359052,"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."}}