{"id":"W4376131634","doi":"10.1093/brain/awad157","title":"GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":114,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Medical Research Council; Else Kröner-Fresenius-Stiftung","keywords":"Ataxia; Neuropathology; Spinocerebellar ataxia; Medicine; Internal medicine; Natural history study; Movement disorders; Psychology; Natural history; Disease; Psychiatry","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":[0.0003436836,0.0002618266,0.0003981478,0.0004915178,0.0003271951,0.0003133854,0.0001812863,0.0002621721,0.0007001744],"category_scores_gemma":[0.0006233651,0.0001144456,0.0002761558,0.0003024857,0.0001729148,0.0002120377,0.0002438831,0.0002078613,0.000214353],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002325325,"about_ca_system_score_gemma":0.0001423017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001731409,"about_ca_topic_score_gemma":0.00189175,"domain_scores_codex":[0.9997415,0.0000457201,0.00003161616,0.0001058843,0.00004260367,0.0000327763],"domain_scores_gemma":[0.9996204,0.00005090809,0.0001599837,0.0000312359,0.00006378446,0.00007359372],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001065012,0.0002001153,0.9624276,0.00002181847,0.0001113077,0.001081787,0.000232646,0.000123276,0.0256185,0.00002177958,0.0001264988,0.008969698],"study_design_scores_gemma":[0.00001158577,0.0007150663,0.9954601,0.000002652471,0.00002905952,0.002494196,0.00005903385,0.0001172338,0.0008876394,0.00001278651,0.0002058973,0.00000476832],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995326,0.00009290066,0.00007633505,0.000004745497,6.576062e-7,0.000007933559,0.0001350196,0.000003857959,0.0001459247],"genre_scores_gemma":[0.9992979,0.00003540033,0.0001258469,0.00001008898,0.000002800256,0.000008369818,0.0003676195,0.000003028212,0.0001489202],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001731409,"threshold_uncertainty_score":0.003442645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03756792259354053,"score_gpt":0.2917400734764776,"score_spread":0.254172150882937,"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."}}