{"id":"W4384521331","doi":"10.1212/wnl.0000000000207649","title":"Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy","year":2023,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of General Medical Sciences; National Institutes of Health","keywords":"Hypotonia; Microcephaly; Neurology; Medicine; Pathology; Atrophy; Retinal degeneration; Exome sequencing; Cerebellar ataxia; Retinitis pigmentosa; Retinal; Pediatrics; Genetics; Biology; Ataxia; Ophthalmology; Mutation","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":[0.0002299161,0.001576949,0.0004118153,0.0008818863,0.001018689,0.0004767369,0.0003776487,0.001116048,0.00341877],"category_scores_gemma":[0.001383655,0.0002253254,0.0002123222,0.0008150424,0.0007402858,0.000381517,0.0007930751,0.0008353681,0.0006158163],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006160693,"about_ca_system_score_gemma":0.000932047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008112137,"about_ca_topic_score_gemma":0.01064492,"domain_scores_codex":[0.9996943,0.00003416206,0.00002807922,0.00008167861,0.00008172871,0.00007998262],"domain_scores_gemma":[0.999647,0.00008712376,0.0001215361,0.00001480781,0.00004182532,0.00008762263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009744812,0.0000537437,0.04138573,0.000108332,0.00003165838,0.9436247,0.0005866369,0.0001328355,0.0067971,0.0006121026,0.001242716,0.005326998],"study_design_scores_gemma":[0.00001503698,0.0001020139,0.07212908,0.00003603538,0.00003129238,0.9223872,0.0002198965,0.0002200977,0.001991051,0.000260813,0.002595994,0.00001146027],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776338,0.002401112,0.001119968,0.001356869,0.0001486955,0.0000620885,0.0008110678,0.0001779569,0.01628849],"genre_scores_gemma":[0.9943008,0.0009187196,0.0008227845,0.0005245779,0.00008402544,0.0000180305,0.0002843959,0.00003191114,0.003014727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008112137,"threshold_uncertainty_score":0.01612985,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007161049708056226,"score_gpt":0.2248369969145849,"score_spread":0.2176759472065287,"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."}}