{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003981165,0.0007294112,0.0003864994,0.001141388,0.000421281,0.0003841463,0.000324706,0.00044946,0.002204626],"category_scores_gemma":[0.0006734941,0.0001078417,0.0002433156,0.0007960318,0.0005062912,0.0002582117,0.0004345108,0.0003013544,0.0002331561],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009302629,"about_ca_system_score_gemma":0.001135833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05181139,"about_ca_topic_score_gemma":0.07274659,"domain_scores_codex":[0.9997856,0.0000286125,0.00002361446,0.00005853438,0.00005322754,0.00005038035],"domain_scores_gemma":[0.9994699,0.0001191042,0.00008526087,0.00002853709,0.0001809155,0.0001162888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004851511,0.0001454483,0.8050013,0.0002927918,0.0001288213,0.03676951,0.0007948244,0.0008248567,0.05078823,0.0005911993,0.001856666,0.1023211],"study_design_scores_gemma":[0.00007027067,0.0003471222,0.8824549,0.000182897,0.0001057075,0.1053929,0.0003378885,0.001436453,0.002647649,0.0002943654,0.00669356,0.00003618169],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941293,0.002027117,0.001016692,0.0002504029,0.000010491,0.00002335602,0.0002718981,0.00005217875,0.002218586],"genre_scores_gemma":[0.9970188,0.001044108,0.001129203,0.0001233845,0.00002991384,0.000006090477,0.0002910889,0.000007229304,0.0003500884],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05181139,"threshold_uncertainty_score":0.1030197,"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."}}