{"id":"W4298088705","doi":"10.1111/jns.12515","title":"Severe distinct dysautonomia in <scp><i>RFC1</i></scp>‐related disease associated with Parkinsonism","year":2022,"lang":"en","type":"article","venue":"Journal of the Peripheral Nervous System","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; UCLH Biomedical Research Centre; Fondazione Regionale per la Ricerca Biomedica; Medical Research Council; International Nut and Dried Fruit Council; European Academy of Neurology; Medical Research Council Canada; University College London; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Muscular Dystrophy Association; Fondazione Cariplo; Rare Diseases Clinical Research Network; Charcot-Marie-Tooth Association","keywords":"Dysautonomia; Parkinsonism; Pure autonomic failure; Cerebellar ataxia; Neuroscience; Medicine; Lewy body; Atrophy; Ataxia; Disease; Psychology; Internal medicine; Parkinson's disease; Orthostatic vital signs","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001064243,0.000792501,0.0003981419,0.0004025056,0.0004160112,0.000302073,0.0001828097,0.000707468,0.001262192],"category_scores_gemma":[0.0005681848,0.000146607,0.0002098337,0.000242776,0.0003989152,0.0002223186,0.0003537707,0.0004687231,0.0002635284],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002779965,"about_ca_system_score_gemma":0.0002354257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001792553,"about_ca_topic_score_gemma":0.003090817,"domain_scores_codex":[0.9998963,0.00001352967,0.0000104727,0.0000315434,0.00001569921,0.00003244987],"domain_scores_gemma":[0.9997249,0.00005744255,0.00006069868,0.00001300154,0.0000205123,0.0001234131],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004599582,0.0001098288,0.1629734,0.0001713934,0.00007405692,0.7405072,0.0006206656,0.0003793351,0.08191818,0.0005259279,0.000876674,0.01138343],"study_design_scores_gemma":[0.00004689805,0.0005271358,0.3168619,0.00003064777,0.00004829542,0.6762459,0.0001437842,0.0005600735,0.003825612,0.0003195204,0.001362954,0.00002731269],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957912,0.0003844821,0.0003848482,0.000138545,0.00001524356,0.00002514711,0.00008667818,0.00003397508,0.003139949],"genre_scores_gemma":[0.9992341,0.0001169443,0.0001659915,0.0001019007,0.00002777118,0.000004512332,0.00005938632,0.000005391591,0.0002840746],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001792553,"threshold_uncertainty_score":0.004222453,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01242966161177016,"score_gpt":0.2083252240037663,"score_spread":0.1958955623919961,"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."}}