{"id":"W4283317329","doi":"10.1007/s12311-022-01430-3","title":"Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra","year":2022,"lang":"en","type":"article","venue":"The Cerebellum","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute for Medical Research Development","keywords":"Medicine; Cerebellar ataxia; Neuroimaging; Ataxia; Magnetic resonance imaging; Pathology; Spasticity; Neuroscience; Radiology; Psychology; Physical medicine and rehabilitation; 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":[0.000383366,0.00237072,0.001005402,0.003416867,0.001829579,0.001080697,0.001294539,0.002056084,0.001770198],"category_scores_gemma":[0.001883738,0.0009250257,0.001082487,0.001580205,0.001928561,0.001246961,0.0015451,0.001130832,0.0004208899],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001157573,"about_ca_system_score_gemma":0.001013782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006581583,"about_ca_topic_score_gemma":0.006763851,"domain_scores_codex":[0.999461,0.00004604116,0.00009060394,0.0001811852,0.00008458991,0.0001366857],"domain_scores_gemma":[0.9989104,0.0002431083,0.0002597384,0.0001086542,0.0001822771,0.0002957814],"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":[0.00005476508,0.00005266053,0.03026288,0.00003227367,0.00003150195,0.9644784,0.0003496768,0.0001116018,0.002043937,0.0001738085,0.0003179182,0.002090574],"study_design_scores_gemma":[0.0000100547,0.00003200446,0.01942436,0.00001123901,0.00003514841,0.9792553,0.0002013427,0.0001791305,0.0003489836,0.0001322528,0.0003553993,0.00001485226],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920591,0.002125619,0.001374765,0.000375422,0.00008096377,0.0000866437,0.0002074561,0.0000561054,0.00363389],"genre_scores_gemma":[0.9977732,0.0007029888,0.0006708973,0.0001442961,0.0001603626,0.00001368259,0.0001194219,0.00001449527,0.0004007334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006581583,"threshold_uncertainty_score":0.01308656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03071626505861704,"score_gpt":0.2883294195941231,"score_spread":0.2576131545355061,"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."}}