{"id":"W2031164947","doi":"10.1002/mds.20315","title":"Sacsin‐related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan","year":2004,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Ataxia; Mutation; Retinal; External ophthalmoplegia; Phenotype; Spastic; Medicine; Pathology; Genetics; Biology; Gene; Ophthalmology; Neuroscience; Psychiatry","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":[0.0001170385,0.0003560948,0.0002652172,0.0002177347,0.0001726496,0.0000702551,0.0003939573,0.0000811253,0.0002446979],"category_scores_gemma":[0.0003521692,0.0003509723,0.00009948747,0.0006760536,0.0002389189,0.0001781594,0.0001373081,0.0002520656,0.0001005204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002171568,"about_ca_system_score_gemma":0.0001543181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001842961,"about_ca_topic_score_gemma":0.0003129589,"domain_scores_codex":[0.9971955,0.0002011733,0.0005041945,0.0009221122,0.0005547957,0.000622175],"domain_scores_gemma":[0.9991469,0.00004055628,0.0001940529,0.0004079902,0.00004036149,0.000170141],"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":[0.0002922921,0.001173181,0.1000269,0.00005993871,0.00002564777,0.00006110451,0.002377643,0.01804242,0.8720608,0.002020844,0.0009408007,0.002918389],"study_design_scores_gemma":[0.006040191,0.0006512965,0.1427972,0.0001481478,0.00003751241,0.00000142572,0.0008988841,0.001234212,0.816219,0.03082271,0.0003285353,0.0008208715],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920233,0.0000653357,0.00007274756,0.004285509,0.0003493862,0.001079318,0.00003247585,0.0001436971,0.001948216],"genre_scores_gemma":[0.9957066,0.00005766033,0.0002085101,0.003086856,0.00002132964,0.0001682115,0.00002518079,0.0000510923,0.000674526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05584181,"threshold_uncertainty_score":0.9998942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01246987821815208,"score_gpt":0.2511589414116529,"score_spread":0.2386890631935008,"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."}}