{"id":"W4205627199","doi":"10.3390/ijms23010552","title":"Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration","year":2022,"lang":"en","type":"review","venue":"International Journal of Molecular Sciences","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Research Foundation of Korea; National Research Foundation","keywords":"Ataxia; Biology; Genetics; Neurodegeneration; Spinocerebellar ataxia; Population; Mutation; Disease; Neuroscience; Medicine; Gene; Pathology","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":[0.0001666715,0.0007218221,0.0006341194,0.001147407,0.0002717688,0.0003660425,0.0003198043,0.0005402345,0.001186406],"category_scores_gemma":[0.0002239777,0.0001164738,0.0004561361,0.0008262765,0.0003600559,0.0002973928,0.0002132536,0.0003279796,0.0002263508],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001318485,"about_ca_system_score_gemma":0.0006813214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01295908,"about_ca_topic_score_gemma":0.01517141,"domain_scores_codex":[0.9998684,0.00002210812,0.00002242847,0.0000266757,0.00003815328,0.00002225813],"domain_scores_gemma":[0.9998828,0.00003069977,0.00003646828,0.000002284364,0.00003156371,0.00001618017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001060141,0.0001320465,0.08904506,0.01074776,0.001295317,0.1437937,0.001726738,0.0026538,0.1384799,0.01077344,0.01863164,0.5816604],"study_design_scores_gemma":[0.0001136627,0.0004667056,0.2316621,0.003131055,0.001309055,0.3679878,0.001277917,0.001476803,0.01673855,0.005611932,0.3700248,0.0001996008],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1038678,0.8858508,0.001740668,0.00102683,0.0003232788,0.0000279781,0.0002915777,0.00008963945,0.006781374],"genre_scores_gemma":[0.3217564,0.6686503,0.002026905,0.0006388557,0.0004296329,0.00002544511,0.0006902795,0.00001914451,0.005763059],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01295908,"threshold_uncertainty_score":0.02576733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02506490898964706,"score_gpt":0.3063909526638867,"score_spread":0.2813260436742396,"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."}}