{"id":"W4416782592","doi":"10.1002/mds.70144","title":"Loss‐of‐Function Variants in <scp> <i>CPT1C</i> </scp> : No Support for a Causal Role in Hereditary Spastic Paraplegia","year":2025,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Université Laval; McMaster University; Montreal Neurological Institute and Hospital; University of Toronto; Children's Hospital of Eastern Ontario; McGill University; University of Ottawa","funders":"Amicus Therapeutics; Idorsia Pharmaceuticals; Canadian Institutes of Health Research; Alnylam Pharmaceuticals; McGill University; Campus France; Fonds de Recherche du Québec - Santé; Université de Bordeaux; Université Laval; Canada First Research Excellence Fund; Centre Hospitalier Universitaire de Québec; Agence Nationale de la Recherche","keywords":"Hereditary spastic paraplegia; Paraplegia; Movement disorders; Neurological disorder; Clinical neurology; Central nervous system disease; Spastic; Degenerative disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000604205,0.0004200137,0.0003007172,0.0007766452,0.0005155948,0.0005996376,0.0006525388,0.0003886909,0.006252513],"category_scores_gemma":[0.00352965,0.00009031493,0.0002634952,0.0007350361,0.001050435,0.0002656674,0.0003385123,0.0003536649,0.000482104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001019098,"about_ca_system_score_gemma":0.001581915,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07390685,"about_ca_topic_score_gemma":0.07482084,"domain_scores_codex":[0.9996392,0.00003135165,0.00003672801,0.000140836,0.00009318814,0.00005871281],"domain_scores_gemma":[0.9981264,0.0006944391,0.0004964324,0.0001229643,0.0003509317,0.0002088332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00181281,0.00003785369,0.9654028,0.0003476687,0.0004280483,0.00339283,0.0003442539,0.0003960805,0.007251376,0.0007168902,0.003691014,0.01617845],"study_design_scores_gemma":[0.000116875,0.0001504847,0.9827891,0.0003540207,0.0005899546,0.005815043,0.0004879095,0.001390631,0.001999955,0.0008039597,0.005480974,0.00002107271],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860292,0.00249487,0.0006970558,0.0009205252,0.00007141609,0.00003033821,0.003851724,0.00003393,0.005870898],"genre_scores_gemma":[0.9966287,0.000739492,0.0002720595,0.0002345359,0.00004333136,0.000006909467,0.00165677,0.00001315191,0.0004050547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07390685,"threshold_uncertainty_score":0.1469533,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01188073412906585,"score_gpt":0.2408414634759776,"score_spread":0.2289607293469118,"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."}}