{"id":"W2022210358","doi":"10.1007/s00401-014-1245-7","title":"Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability","year":2014,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":false,"ca_institutions":"Vancouver General Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"C9orf72; Frontotemporal dementia; Intellectual disability; Dementia; Mutation; Frontotemporal lobar degeneration; Autopsy; Trinucleotide repeat expansion; Medicine; Pathology; Psychology; Psychiatry; Genetics; Disease; Biology; Allele; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005942155,0.0002099523,0.0003958086,0.00008097835,0.00008132317,0.00003735479,0.0001301785,0.0001308794,0.0001169239],"category_scores_gemma":[0.001359115,0.0001429863,0.00004402742,0.0002207323,0.0005357531,0.0001378224,0.0001667596,0.000464279,0.00002413594],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005596679,"about_ca_system_score_gemma":0.00002389052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001007809,"about_ca_topic_score_gemma":0.00005794436,"domain_scores_codex":[0.9975807,0.0006981308,0.000340819,0.0006652777,0.0002869906,0.0004280541],"domain_scores_gemma":[0.9989384,0.0003035633,0.00008659119,0.0004475301,0.00006264752,0.0001612328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001389416,0.000318256,0.9176185,0.00003996662,0.00001599681,0.00172395,0.001201364,0.000004054135,0.06442874,0.00002859519,0.00008283479,0.01314837],"study_design_scores_gemma":[0.001645569,0.002879167,0.9936994,0.00003940433,0.00003438341,0.0006681195,0.00005122547,0.0003282198,0.00020195,0.0001245191,0.0001799985,0.0001480298],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968165,0.00004136847,0.0002313582,0.001516446,0.00003645514,0.0005283298,0.00000308254,0.00008318981,0.0007432264],"genre_scores_gemma":[0.9981957,0.00004911346,0.001128096,0.0004094118,0.00005744601,0.00004880637,0.00001779746,0.00002657671,0.00006706041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07608096,"threshold_uncertainty_score":0.5830811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01856272064433544,"score_gpt":0.2540036014472066,"score_spread":0.2354408808028712,"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."}}