{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005332272,0.0003162256,0.0004789427,0.0001284939,0.0006083024,0.00013099,0.001064787,0.00004334582,0.00005255317],"category_scores_gemma":[0.001080731,0.0002138437,0.0003060761,0.0007464052,0.0001321148,0.0001629146,0.0003078624,0.0007011712,0.000005114453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008995705,"about_ca_system_score_gemma":0.0005456475,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001551687,"about_ca_topic_score_gemma":0.00002456894,"domain_scores_codex":[0.9951351,0.002108343,0.000804144,0.0004125458,0.001044431,0.0004954533],"domain_scores_gemma":[0.9976047,0.0004348294,0.001100723,0.0004508225,0.0001068675,0.0003020907],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"observational","study_design_scores_codex":[0.0005593114,0.001818363,0.2738101,0.0002137063,0.0002252113,0.004555238,0.004050276,0.6124348,0.09390309,0.001183219,0.006712343,0.0005342729],"study_design_scores_gemma":[0.007501879,0.001350067,0.9327026,0.0007006162,0.0004010192,0.002977992,0.004078252,0.02198118,0.01767533,0.000312174,0.009656521,0.0006623526],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965774,0.0002356573,0.00001321924,0.0005570849,0.001218115,0.0004510797,0.0001435467,0.00005347035,0.0007503573],"genre_scores_gemma":[0.9976535,0.000004649783,0.00001540483,0.0004872216,0.00009695684,0.00004856793,0.000002361397,0.00006402069,0.001627307],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6588925,"threshold_uncertainty_score":0.8720293,"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."}}