{"id":"W4402780600","doi":"10.1002/mds.30012","title":"Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Suna ve İnan Kıraç Vakfı; Ministero della Salute; Universitätsklinikum Tübingen; Else Kröner-Fresenius-Stiftung; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft","keywords":"Peripheral blood mononuclear cell; Biomarker; Phenotype; Medicine; Ataxia; Missense mutation; Immunology; Pathology; Biology; Genetics; Gene; In vitro","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":[0.001668186,0.000467864,0.0003683982,0.0007979266,0.0003838889,0.0005672624,0.0003270229,0.0006620422,0.002704404],"category_scores_gemma":[0.001463141,0.0002162952,0.000299203,0.0006766862,0.0003579785,0.0002452175,0.0003813655,0.0004911635,0.001222557],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003309213,"about_ca_system_score_gemma":0.0002907728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008908648,"about_ca_topic_score_gemma":0.001190141,"domain_scores_codex":[0.9988508,0.0002865011,0.000104606,0.0002576083,0.0004490726,0.00005132075],"domain_scores_gemma":[0.9987383,0.0002500485,0.0002777261,0.0001503526,0.0004557139,0.0001277174],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.009151245,0.001116796,0.1882717,0.002076636,0.0005402739,0.001676268,0.0007440742,0.0005683949,0.7092999,0.0009540617,0.005175278,0.08042538],"study_design_scores_gemma":[0.001453523,0.0127728,0.6803116,0.0004103065,0.0009134724,0.02040971,0.0004408971,0.00274456,0.2286721,0.001316169,0.05045031,0.0001045587],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9509518,0.01765486,0.01240959,0.0004201405,0.0001634707,0.0008375883,0.007622021,0.0002497208,0.009690945],"genre_scores_gemma":[0.9552658,0.0042314,0.02029002,0.0004208997,0.0001046608,0.001002882,0.0122029,0.00006324834,0.00641823],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002704404,"threshold_uncertainty_score":0.009047151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02504975736758379,"score_gpt":0.2810762016907046,"score_spread":0.2560264443231208,"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."}}