{"id":"W3000368710","doi":"10.1002/mgg3.1052","title":"Clinical and genetic analysis of <i>ATP13A2</i> in hereditary spastic paraplegia expands the phenotype","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research","keywords":"Hereditary spastic paraplegia; Spasticity; Medicine; Exome sequencing; Spastic; Phenotype; Mutation; Extrapyramidal symptoms; Paraplegia; Genetics; Bioinformatics; Psychiatry; Gene; Biology; Physical medicine and rehabilitation; Spinal cord; Schizophrenia (object-oriented programming)","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":[],"consensus_categories":[],"category_scores_codex":[0.0002946845,0.0002518211,0.0006770051,0.0001545516,0.00004193858,0.000009553249,0.0005757583,0.0001185258,0.0001568397],"category_scores_gemma":[0.001229302,0.0001801747,0.0001379391,0.00124366,0.000965449,0.00001695737,0.0002316007,0.0003598075,0.00001325963],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008509583,"about_ca_system_score_gemma":0.0000560827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003762715,"about_ca_topic_score_gemma":0.0000267196,"domain_scores_codex":[0.9969764,0.000594308,0.0008932597,0.0007540291,0.0004172246,0.0003647253],"domain_scores_gemma":[0.9983629,0.0006331083,0.0001745368,0.0005226316,0.0000311456,0.0002756971],"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":[0.0002625988,0.0001653244,0.06432863,0.0000569134,0.0002541434,0.001115238,0.001562742,0.02068147,0.9002501,0.000208579,0.0005306646,0.01058361],"study_design_scores_gemma":[0.003060729,0.002522227,0.8881373,0.0000258007,0.001775532,0.00003105893,0.0002550427,0.09299533,0.006253035,0.001501087,0.002915239,0.0005276474],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873481,0.003012699,0.002481469,0.006276399,0.0002024315,0.0003892494,0.00001708426,0.0000238771,0.0002487113],"genre_scores_gemma":[0.984826,0.001299259,0.0003137136,0.01335403,0.0001538711,0.00001238823,0.000007304618,0.00002883983,0.00000457299],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8939971,"threshold_uncertainty_score":0.734731,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04558237696952491,"score_gpt":0.2969445689081327,"score_spread":0.2513621919386078,"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."}}