{"id":"W2130121551","doi":"10.1186/1750-1172-8-41","title":"Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":189,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria General Hospital","funders":"RWTH Aachen University; Technische Universität München; Deutsches Zentrum für Neurodegenerative Erkrankungen; Eberhard Karls Universität Tübingen","keywords":"Ataxia; Cerebellar ataxia; Genetics; Missense mutation; Pathology; Medicine; Spastic; Spinocerebellar ataxia; Biology; Phenotype; Neuroscience; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000160626,0.0002766787,0.0004657001,0.0001555413,0.0001971679,0.0001776112,0.0005949472,0.00003785656,0.0004767725],"category_scores_gemma":[0.001892646,0.0001861117,0.0002432944,0.0002259495,0.0007247708,0.0003927332,0.0001828589,0.000253316,0.00002858079],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001657087,"about_ca_system_score_gemma":0.0001891423,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000156693,"about_ca_topic_score_gemma":0.000002724083,"domain_scores_codex":[0.9970487,0.0006456277,0.0009090588,0.0004027805,0.0006007509,0.0003930465],"domain_scores_gemma":[0.9971097,0.001011294,0.0008928445,0.0003562018,0.0001855545,0.0004444058],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003205523,0.000513906,0.6941657,0.0001117644,0.00008090541,0.0005990805,0.0002915803,0.0003364747,0.2816528,0.00009882854,0.009870637,0.01195782],"study_design_scores_gemma":[0.001365321,0.0003716459,0.8015043,0.0002016447,0.0002871876,0.00056577,0.0003202634,0.0006557585,0.1927141,0.001472012,0.0002318762,0.0003102026],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938655,0.003862575,0.0002536452,0.0009874238,0.0005282859,0.0003181502,0.0001100043,0.00001693773,0.00005749387],"genre_scores_gemma":[0.9978411,0.0008028343,0.0001446651,0.0005984643,0.0004707949,0.0000113248,0.000002064983,0.00003545503,0.00009335991],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1073385,"threshold_uncertainty_score":0.7589414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02255315426637393,"score_gpt":0.2887545636808953,"score_spread":0.2662014094145214,"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."}}