{"id":"W4307842001","doi":"10.1093/brain/awac391","title":"The clinical and molecular spectrum of <i>ZFYVE26</i>-associated hereditary spastic paraplegia: SPG15","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Manton Center for Orphan Disease Research, Boston Children's Hospital; Research Committee for Ataxic Disease; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University College London Hospitals NHS Foundation Trust; Brain Research UK; Deutsche Forschungsgemeinschaft; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Ministero della Salute; Spastic Paraplegia Foundation; Wellcome Trust","keywords":"Hereditary spastic paraplegia; Parkinsonism; Spasticity; Medicine; Pediatrics; Movement disorders; Age of onset; Dystonia; Spastic; Physical medicine and rehabilitation; Pathology; Cerebral palsy; Disease; Phenotype; Psychiatry; Biology; Genetics","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":[0.0002891256,0.0006122972,0.0004086247,0.0007581034,0.0004150636,0.0002908084,0.0002291154,0.0003013294,0.001529154],"category_scores_gemma":[0.0007198969,0.0001275974,0.0002218811,0.0004933728,0.000434516,0.0002745997,0.0005931338,0.0001948746,0.0002886329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001408777,"about_ca_system_score_gemma":0.0001596727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001098801,"about_ca_topic_score_gemma":0.001432569,"domain_scores_codex":[0.9997771,0.00003247138,0.0000297944,0.00008447291,0.00003515241,0.00004102004],"domain_scores_gemma":[0.9996817,0.00006386475,0.0001310291,0.00001789232,0.00003138392,0.00007413008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003281229,0.00005391025,0.9107189,0.0001114309,0.0001019881,0.03672884,0.001029355,0.0003516603,0.02734676,0.0002018933,0.000544985,0.02248222],"study_design_scores_gemma":[0.000007730981,0.0001776475,0.9182684,0.00003453517,0.00003705818,0.07895982,0.0002986253,0.00009168822,0.001241418,0.0001672976,0.0007042376,0.00001157481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984819,0.0004759033,0.0002862206,0.00002916939,0.000002416048,0.00001037588,0.0002163308,0.00001196424,0.0004857888],"genre_scores_gemma":[0.9990086,0.0003214197,0.0002581143,0.00002499341,0.000006411253,0.00000628355,0.0002509242,0.000005213446,0.0001181227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001529154,"threshold_uncertainty_score":0.005115569,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03265992226206794,"score_gpt":0.2858340727291496,"score_spread":0.2531741504670816,"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."}}