{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000339321,0.0003248862,0.0004133088,0.0004110832,0.00007790266,0.00002634341,0.0004302118,0.0001681469,0.0001171711],"category_scores_gemma":[0.002025255,0.0003321736,0.0001340605,0.000976823,0.0001757721,0.0002804119,0.0001449212,0.0003045899,0.00004456471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008295542,"about_ca_system_score_gemma":0.0001487404,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003538969,"about_ca_topic_score_gemma":0.001423361,"domain_scores_codex":[0.9971033,0.0001902399,0.0007116584,0.0008418557,0.0003785744,0.0007744012],"domain_scores_gemma":[0.9982887,0.001072141,0.0001381873,0.0003746685,0.00003708982,0.00008922275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001954016,0.01008288,0.654887,0.00115551,0.0001316171,0.0003960377,0.001579763,0.02290112,0.1531174,0.0278956,0.1144423,0.01145674],"study_design_scores_gemma":[0.01367868,0.003959863,0.5602713,0.0002036401,0.00009801003,0.000001436702,0.002066842,0.02044652,0.008121797,0.3588966,0.03160981,0.0006455452],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9731034,0.0001229043,0.002619494,0.001544359,0.001867128,0.002224378,0.0001467004,0.0001159881,0.01825563],"genre_scores_gemma":[0.989511,0.0001047928,0.00007120003,0.009140917,0.00003895751,0.0004043335,0.00003179721,0.00003200485,0.000665016],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.331001,"threshold_uncertainty_score":0.999913,"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."}}