{"id":"W2046548806","doi":"10.1055/s-2001-16616","title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families","year":2001,"lang":"en","type":"article","venue":"Neuropediatrics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Spasticity; Ataxia; Cerebellar ataxia; Spastic; Atrophy; Locus (genetics); Dysarthria; Hereditary spastic paraplegia; Pediatrics; Pathology; Genetics; Audiology; Biology; Physical medicine and rehabilitation; Cerebral palsy; Psychiatry; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001088259,0.0003203825,0.0003471616,0.0004533042,0.00009325718,0.00004808994,0.000564369,0.00006034828,0.00008621689],"category_scores_gemma":[0.00303345,0.0003121347,0.0001015087,0.002103316,0.0001893167,0.0002095558,0.0002237514,0.0003770777,0.0001655493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003134151,"about_ca_system_score_gemma":0.0001317347,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006250141,"about_ca_topic_score_gemma":0.00004732849,"domain_scores_codex":[0.9969674,0.000520002,0.0005964489,0.0007964856,0.0005845281,0.0005350959],"domain_scores_gemma":[0.9982707,0.0006273532,0.0002889997,0.0005044029,0.0001237215,0.0001848192],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002289153,0.0006645304,0.27436,0.00007856358,0.000005572233,0.001238697,0.0004058856,0.01431498,0.7037296,0.000361726,0.002123622,0.002487958],"study_design_scores_gemma":[0.003885558,0.0005360791,0.3058115,0.00004795894,0.0001235123,0.000113878,0.00009540335,0.00580801,0.6783558,0.0003206022,0.003928482,0.000973246],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945286,0.0002107239,0.0000723462,0.0001367968,0.0006954226,0.0003762496,0.00007274839,0.0001062543,0.00380084],"genre_scores_gemma":[0.9966546,0.001579027,0.00004907883,0.0006063983,0.0002203692,0.00002104873,0.000007050723,0.00006285091,0.0007995712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03145152,"threshold_uncertainty_score":0.9999331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02428922930304471,"score_gpt":0.2715598348780042,"score_spread":0.2472706055749594,"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."}}