{"id":"W2150523249","doi":"10.1016/j.neuron.2011.09.010","title":"A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD","year":2011,"lang":"en","type":"article","venue":"Neuron","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":4469,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre; Sunnybrook Health Science Centre; Toronto Western Hospital; University of Toronto","funders":"National Institute on Aging; National Institute of Neurological Disorders and Stroke; Medical Research Council; Terveyden ja hyvinvoinnin laitos; National Institutes of Health; Motor Neurone Disease Association; Wellcome Trust","keywords":"C9orf72; Frontotemporal dementia; Amyotrophic lateral sclerosis; Genetics; Trinucleotide repeat expansion; Haplotype; Biology; TARDBP; Locus (genetics); Population; Gene; Disease; Dementia; SOD1; Medicine; Allele; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.0002539844,0.001485454,0.000682755,0.001263477,0.001291683,0.0003840672,0.0007931503,0.002487553,0.004559227],"category_scores_gemma":[0.001366793,0.0001686092,0.0006602008,0.0007395328,0.0006955569,0.000296617,0.0004430776,0.0008555949,0.001130461],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005409028,"about_ca_system_score_gemma":0.0003081535,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002160746,"about_ca_topic_score_gemma":0.001782976,"domain_scores_codex":[0.9997199,0.00003974131,0.00004128078,0.00008912814,0.00006704904,0.00004286991],"domain_scores_gemma":[0.9993592,0.0002208588,0.0001850471,0.00003116989,0.00006623255,0.0001374907],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.003468811,0.0003309431,0.03147808,0.0001839425,0.0002346521,0.7539202,0.0005149223,0.0009293459,0.1866641,0.001176988,0.004477439,0.01662061],"study_design_scores_gemma":[0.0006125489,0.00129628,0.3004605,0.0001361652,0.0007544443,0.5912163,0.0007345048,0.004526567,0.08344994,0.002944243,0.01365849,0.000209948],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932908,0.0004733837,0.0009617515,0.001062579,0.0002914784,0.00004370572,0.0008427665,0.0001334709,0.00289994],"genre_scores_gemma":[0.9974836,0.0001263405,0.0005961619,0.0001551231,0.000176656,0.00001065696,0.0003138315,0.00001979419,0.001117909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004559227,"threshold_uncertainty_score":0.01525211,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08941143169489717,"score_gpt":0.305342773421491,"score_spread":0.2159313417265938,"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."}}