{"id":"W2100419087","doi":"10.1093/brain/awv074","title":"Adult-onset painful axonal polyneuropathy caused by a dominant<i>NAGLU</i>mutation","year":2015,"lang":"en","type":"article","venue":"Brain","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; Cégep de Jonquière; Centre Hospitalier Universitaire Sainte-Justine; McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research","keywords":"Ataxia; Dystonia; Exome sequencing; Mutation; Medicine; Mucopolysaccharidosis; Enzyme replacement therapy; Phenotype; Disease; Age of onset; Exome; Genetics; Internal medicine; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005643003,0.0001742346,0.0002517709,0.000137604,0.0000696891,0.00003625782,0.0001398168,0.0001026274,0.0001409281],"category_scores_gemma":[0.002857244,0.0001542603,0.00008141146,0.0003768184,0.0001141729,0.0001127927,0.00006274023,0.000249024,0.0005243718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001344897,"about_ca_system_score_gemma":0.0003084835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002702378,"about_ca_topic_score_gemma":0.00005843701,"domain_scores_codex":[0.9980046,0.0002297136,0.0002538942,0.0003390457,0.0007458708,0.0004269425],"domain_scores_gemma":[0.9987288,0.0001936867,0.00006511329,0.0003147637,0.0002752702,0.0004224329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001108135,0.0005337682,0.02227296,0.00009981335,0.00006607747,0.001419045,0.002017068,0.00000373043,0.03554959,0.000143764,0.9216413,0.01514469],"study_design_scores_gemma":[0.0738835,0.009082609,0.136906,0.0005843161,0.0003348855,0.003249978,0.009210063,0.01299924,0.066065,0.002716195,0.682227,0.002741202],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977519,0.0004774506,0.0008344558,0.01625686,0.0001494571,0.0006318229,0.00007152122,0.0001107143,0.00394871],"genre_scores_gemma":[0.9889974,0.00001088719,0.0002118421,0.004795127,0.0001333852,0.00005885714,0.0002179722,0.0000480322,0.0055265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2394144,"threshold_uncertainty_score":0.6739913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02496165375965676,"score_gpt":0.3001470537789195,"score_spread":0.2751854000192627,"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."}}