{"id":"W4382658132","doi":"10.1136/jnnp-2023-331490","title":"Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy","year":2023,"lang":"en","type":"article","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre de réadaptation Lethbridge-Layton-Mackay; McGill University; Montreal Neurological Institute and Hospital","funders":"Fondation Groupe Monaco; Canadian Institutes of Health Research; Fondazione Regionale per la Ricerca Biomedica; Servier; Regione Lombardia; Medizinische Universität Wien; Fondazione Cariplo; Medical Research Council; Universität Wien; National Institute for Health and Care Research; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; University College London Hospitals NHS Foundation Trust; Rosetrees Trust; Else Kröner-Fresenius-Stiftung; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University College London; Fondation de l'Hôpital Général de Montréal; Wellcome Trust","keywords":"Ataxia; Medicine; Psychiatry","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":[0.0001997834,0.0005021148,0.0003541302,0.0006695039,0.0002693007,0.0002388157,0.0002878971,0.0004061216,0.001992087],"category_scores_gemma":[0.001191034,0.0001562883,0.000154033,0.0004337305,0.0003251574,0.0001455157,0.0002623371,0.0001771258,0.0002225704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001180101,"about_ca_system_score_gemma":0.0001339511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009666507,"about_ca_topic_score_gemma":0.001052752,"domain_scores_codex":[0.9996407,0.00005268087,0.00004341037,0.0001135378,0.00008974763,0.0000599074],"domain_scores_gemma":[0.9993435,0.0001439025,0.0003460715,0.00003771218,0.00004915392,0.00007964724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003272734,0.00003956779,0.9576135,0.00004026056,0.00006191844,0.01210816,0.0001657507,0.00009095105,0.01884773,0.0001208594,0.0002525941,0.01033135],"study_design_scores_gemma":[0.00002775363,0.0002569014,0.920407,0.00001560063,0.0000542346,0.07609747,0.0001271151,0.0003178265,0.002008493,0.0001438426,0.0005351395,0.00000857823],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991903,0.0001864431,0.0001917235,0.00001634546,0.000001886708,0.000005342607,0.00004732798,0.00001405484,0.0003465663],"genre_scores_gemma":[0.9995571,0.00006928715,0.0001492547,0.00001802294,0.00001137016,0.000003311588,0.00008887581,0.000002926999,0.00009997313],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001992087,"threshold_uncertainty_score":0.006664157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02635269166745007,"score_gpt":0.2623954934453242,"score_spread":0.2360428017778741,"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."}}