{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001373241,0.0007933847,0.0004442758,0.00081266,0.0008743235,0.0003172159,0.0002012109,0.0004967623,0.001129488],"category_scores_gemma":[0.0003524929,0.0003537123,0.0003080718,0.0005555535,0.0005256557,0.0001801855,0.0004957341,0.0002593961,0.0002042532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007555406,"about_ca_system_score_gemma":0.0004701914,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03789122,"about_ca_topic_score_gemma":0.05417502,"domain_scores_codex":[0.9998242,0.00002666923,0.00002755971,0.0000406824,0.00003986462,0.00004108751],"domain_scores_gemma":[0.9997619,0.00002757033,0.0000593748,0.00001249176,0.00003526786,0.0001034417],"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":[0.0008907164,0.0002136395,0.3007766,0.0002543786,0.0003290701,0.5751367,0.004329596,0.0004918182,0.1000853,0.0009678003,0.001116869,0.01540756],"study_design_scores_gemma":[0.0003153333,0.0006302178,0.587121,0.00008362244,0.000481314,0.3962041,0.001701397,0.0007365856,0.006178271,0.0003540259,0.006111887,0.00008210693],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981882,0.0003157479,0.000197215,0.0000549646,0.000009784962,0.00001075859,0.00004788235,0.00000992617,0.001165591],"genre_scores_gemma":[0.9987733,0.0002853119,0.0001666398,0.00003650603,0.00001156449,0.00000513978,0.00005521875,0.000004140355,0.000662216],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03789122,"threshold_uncertainty_score":0.07534134,"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."}}