{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002170635,0.0002920863,0.0003680493,0.0001483446,0.0001692836,0.00003682909,0.0004114262,0.00008771192,0.00008482731],"category_scores_gemma":[0.001328007,0.0002825172,0.0001263769,0.0005571648,0.000435056,0.00008082019,0.0002421088,0.0002582807,0.00002960949],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006711342,"about_ca_system_score_gemma":0.00006592399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002297346,"about_ca_topic_score_gemma":0.00009396533,"domain_scores_codex":[0.9966709,0.0006775139,0.0006583458,0.0009999129,0.0005654831,0.0004278642],"domain_scores_gemma":[0.9983509,0.0004098007,0.0002240697,0.0006871239,0.00008213253,0.0002459932],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003142828,0.002889422,0.7788118,0.00006329611,0.00004971948,0.000307687,0.000726042,0.0005523583,0.2008326,0.00008603762,0.0004589083,0.01490778],"study_design_scores_gemma":[0.002089276,0.001971276,0.9400637,0.00000945248,0.0001068311,0.00002052472,0.0004290229,0.0001354035,0.05338015,0.000184537,0.001270682,0.0003391481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99748,0.0002597463,0.0001153356,0.00007256574,0.000581202,0.0008178024,0.000009277003,0.00006806175,0.0005959528],"genre_scores_gemma":[0.998823,0.0003984245,0.0001609566,0.0004123447,0.00006088072,0.00001026816,0.000001724976,0.00005662906,0.00007573728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1612519,"threshold_uncertainty_score":0.9999627,"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."}}