{"id":"W2340895726","doi":"10.1038/ncomms11253","title":"CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia","year":2016,"lang":"en","type":"article","venue":"Nature Communications","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":209,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; Fundación Española para el Fomento de la Investigación de la Esclerosis Lateral Amiotrófica; Medical Research Council; National Institutes of Health; Canadian Institutes of Health Research; CurePSP; Motor Neurone Disease Research Institute of Australia; National Health and Medical Research Council; Motor Neurone Disease Association; ALS Therapy Alliance; ALS Association","keywords":"Frontotemporal dementia; Amyotrophic lateral sclerosis; Biology; Genetics; C9orf72; Ubiquitin ligase; Exome sequencing; TARDBP; Ubiquitin; Mutation; Mutant; Dementia; Gene; Disease; Medicine; Trinucleotide repeat expansion; Pathology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002444287,0.0002902164,0.000198882,0.0005979679,0.0003564791,0.00022593,0.0001661569,0.0005413272,0.0005847814],"category_scores_gemma":[0.0004628078,0.0001021122,0.0001163559,0.0005926309,0.0002403956,0.0001415108,0.0002755659,0.000142604,0.0001648548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003039719,"about_ca_system_score_gemma":0.0002312516,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002151861,"about_ca_topic_score_gemma":0.004567404,"domain_scores_codex":[0.9998723,0.00001980539,0.00001721095,0.00003349334,0.00004527476,0.00001195214],"domain_scores_gemma":[0.9999137,0.0000204214,0.00003405491,0.000005473624,0.000007800144,0.00001859936],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003344591,0.00032427,0.4292091,0.0005206861,0.0002476982,0.04789237,0.001084208,0.001239014,0.4108005,0.001283488,0.003061019,0.100993],"study_design_scores_gemma":[0.0001949883,0.000335034,0.8737485,0.0001008135,0.0002033963,0.0683307,0.0003410178,0.0007133377,0.04103166,0.001558413,0.01341383,0.00002828412],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946927,0.00302348,0.0002367195,0.0001221624,0.00001878002,0.00001520916,0.0002130521,0.00001965992,0.001658333],"genre_scores_gemma":[0.9972718,0.001232655,0.0006151244,0.00007723166,0.00002244476,0.000007950583,0.000342288,0.000003617244,0.0004269179],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002151861,"threshold_uncertainty_score":0.00427866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04608152415295605,"score_gpt":0.3289836810486354,"score_spread":0.2829021568956793,"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."}}