{"id":"W4414877860","doi":"10.1002/ana.78013","title":"Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism","year":2025,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Autophagy in Disease and Therapy","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; Children's Hospital of Eastern Ontario; University of British Columbia; University Health Network","funders":"Medizinische Fakultät, Universität zu Köln; National Institute of Neurological Disorders and Stroke; H2020 Marie Skłodowska-Curie Actions; HORIZON EUROPE Framework Programme; National Human Genome Research Institute; Estonian Research Competency Council; European Commission; Universität zu Köln; ZonMw; Horizon 2020 Framework Programme; Deutsche Forschungsgemeinschaft; Action Medical Research","keywords":"Parkinsonism; Autophagy; Disease; Parkinson's disease; Key (lock); Neurodevelopmental disorder","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.0002183355,0.0009459032,0.0004561928,0.001156653,0.0003850833,0.0002885957,0.0003631098,0.0006882823,0.003108951],"category_scores_gemma":[0.0006507126,0.0001161082,0.0003871685,0.0006674688,0.0005183415,0.0001811673,0.000611093,0.0003238129,0.0004287756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002767699,"about_ca_system_score_gemma":0.0002353536,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001422602,"about_ca_topic_score_gemma":0.001577742,"domain_scores_codex":[0.99977,0.00002596654,0.00003471898,0.00007875142,0.00006457757,0.00002599382],"domain_scores_gemma":[0.999687,0.00007884226,0.0001369239,0.00001803055,0.00002710508,0.00005223624],"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":[0.001940218,0.0001608415,0.2895929,0.0005012029,0.0007847167,0.2585138,0.0006534297,0.001206397,0.3979631,0.001791664,0.002344954,0.0445467],"study_design_scores_gemma":[0.00008320573,0.0003735194,0.6793931,0.0001671086,0.000482289,0.244204,0.0002734887,0.001457038,0.0656089,0.0006208398,0.007305476,0.00003103365],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948645,0.001306519,0.00159444,0.0001013204,0.00002074665,0.00003603875,0.0007578922,0.00005159565,0.001266899],"genre_scores_gemma":[0.9978213,0.0003700402,0.0008059776,0.00006501236,0.00002287635,0.000009900716,0.0004599179,0.000008659812,0.0004364355],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003108951,"threshold_uncertainty_score":0.01040047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04635673722721367,"score_gpt":0.3335488505409535,"score_spread":0.2871921133137398,"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."}}