{"id":"W4409486670","doi":"10.1093/brain/awaf134","title":"Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy","year":2025,"lang":"en","type":"article","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders; McGill University; Montreal Neurological Institute and Hospital","funders":"NIHR Cambridge Biomedical Research Centre; International Centre for Bamboo and Rattan; University College London Hospitals Biomedical Research Centre; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Medical Research Council Canada; European Academy of Neurology; Multiple Sclerosis Society; Department of Health and Social Care; Instituto de Salud Carlos III; National Institute for Health and Care Research; Else Kröner-Fresenius-Stiftung; Multiple System Atrophy Coalition","keywords":"Parkinsonism; Atrophy; Ataxia; Spinocerebellar ataxia; Medicine; Pathology; Internal medicine; Biology; Neuroscience; Disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003079344,0.0002669254,0.0002341479,0.0005678093,0.0002521204,0.0003038826,0.0001610556,0.0003225995,0.001216005],"category_scores_gemma":[0.00160355,0.0001313841,0.0002559598,0.0003082475,0.0002882952,0.0001862014,0.000196678,0.0001739298,0.0001464021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001426572,"about_ca_system_score_gemma":0.0001071932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002718282,"about_ca_topic_score_gemma":0.003676634,"domain_scores_codex":[0.9998032,0.00005761071,0.00001859444,0.00005320457,0.00003589312,0.00003154453],"domain_scores_gemma":[0.9992567,0.0002576769,0.0002746418,0.00003941756,0.00007630691,0.00009517202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004739538,0.0000284173,0.987065,0.00000856834,0.00004928426,0.0006580115,0.0001037513,0.00007041047,0.006930748,0.00001242487,0.00005485618,0.004544624],"study_design_scores_gemma":[0.000004288342,0.0001220461,0.9974275,0.000002841598,0.00003093869,0.001430728,0.00005011918,0.0001987582,0.0006407154,0.00002191182,0.00006750861,0.000002476487],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997887,0.00008509519,0.00002925041,0.000005313279,6.17173e-7,5.72769e-7,0.00001426207,0.00000180939,0.00007439383],"genre_scores_gemma":[0.9998606,0.00002418158,0.00003323995,0.0000034113,0.000001381609,4.775782e-7,0.0000245518,0.000001090918,0.00005086097],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002718282,"threshold_uncertainty_score":0.00540489,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01949674878060105,"score_gpt":0.3025236082246673,"score_spread":0.2830268594440663,"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."}}