{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009016928,0.0001445052,0.0002372106,0.00003783075,0.0003573466,0.00002125936,0.000480901,0.00006045168,0.0001650151],"category_scores_gemma":[0.004020009,0.0001135325,0.0001198667,0.0003918118,0.0005902328,0.00006827019,0.0004262475,0.0005476021,0.00001376846],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001405155,"about_ca_system_score_gemma":0.00006314142,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002508868,"about_ca_topic_score_gemma":0.00002121139,"domain_scores_codex":[0.9968752,0.001373353,0.0004303123,0.0004676698,0.0004666434,0.0003867801],"domain_scores_gemma":[0.9963986,0.003014521,0.00014647,0.0003188032,0.00001067532,0.000110903],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002646081,0.005347281,0.06569561,0.0001107145,0.0003023319,0.0102356,0.0009048334,0.003611201,0.252859,0.1464206,0.4776232,0.03424355],"study_design_scores_gemma":[0.009793266,0.01124566,0.3202737,0.00003525678,0.0001717601,0.0006709915,0.00112322,0.01173182,0.01788353,0.2117344,0.4133731,0.001963313],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.971047,0.0002232684,0.00004255996,0.02606008,0.0005977382,0.0003180068,0.0000743874,0.00007721177,0.001559728],"genre_scores_gemma":[0.9900128,0.00004755404,0.00001562618,0.00965476,0.00005064467,0.00002724859,0.000003729523,0.00002090272,0.0001667915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2545781,"threshold_uncertainty_score":0.4812617,"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."}}