{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001557361,0.001063123,0.0004157721,0.0004066254,0.0009420534,0.0004082822,0.0003123039,0.000472414,0.003245152],"category_scores_gemma":[0.0004179488,0.0001493377,0.000327868,0.0003613797,0.0003769037,0.0001062043,0.0003230537,0.000275392,0.0005528582],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007520191,"about_ca_system_score_gemma":0.0007891678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05357265,"about_ca_topic_score_gemma":0.07085939,"domain_scores_codex":[0.999813,0.00001166,0.00001317974,0.00006199825,0.00003811088,0.00006196693],"domain_scores_gemma":[0.9998119,0.00002811559,0.00003126036,0.000008313283,0.0000356487,0.00008476873],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.00137668,0.0003546829,0.2224143,0.000360022,0.0001696482,0.3589127,0.002143056,0.0005316614,0.3798065,0.0007740261,0.002924141,0.03023266],"study_design_scores_gemma":[0.00009889583,0.0008982418,0.6969615,0.00008082904,0.0002439474,0.270881,0.0006884465,0.001029469,0.02042453,0.0001593024,0.008475526,0.00005833324],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941764,0.0004648303,0.001028598,0.00009732127,0.00001616658,0.0000790239,0.0005567943,0.00007624838,0.003504692],"genre_scores_gemma":[0.9966529,0.0002417183,0.0007639157,0.0001842686,0.00001936416,0.00001453522,0.0003863736,0.000019075,0.001717868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05357265,"threshold_uncertainty_score":0.1065217,"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."}}