{"id":"W1990635190","doi":"10.1007/s00401-015-1431-2","title":"A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration","year":2015,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; National Institutes of Health","keywords":"Frontotemporal lobar degeneration; Proband; Amyotrophic lateral sclerosis; Pathology; SOD1; Atrophy; Dementia; Frontotemporal dementia; Neuroscience; Biology; Medicine; Mutation; Genetics; Disease","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":[0.0002908727,0.001151613,0.0005816796,0.0009948332,0.0006390784,0.0004178904,0.0004741824,0.0009342075,0.001296185],"category_scores_gemma":[0.0008404503,0.0003090114,0.0003556288,0.0007928537,0.0007503565,0.0002595232,0.0005393405,0.0003883487,0.0004142403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002910583,"about_ca_system_score_gemma":0.0002996869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00105406,"about_ca_topic_score_gemma":0.001347414,"domain_scores_codex":[0.999723,0.00004087404,0.00006044169,0.00009206479,0.00005390848,0.0000296928],"domain_scores_gemma":[0.9994071,0.0001318035,0.0002618797,0.00003341183,0.00003479718,0.0001310805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.004131119,0.0005376279,0.2758615,0.0002847378,0.0005138126,0.3473805,0.001342719,0.001014747,0.3499098,0.0009886143,0.00115146,0.01688337],"study_design_scores_gemma":[0.0002539034,0.0008038711,0.5382162,0.00007588638,0.000434343,0.4362326,0.0004286362,0.00153597,0.01842419,0.001563676,0.001965806,0.0000649436],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999046,0.0001804255,0.0001374824,0.00006141187,0.000008264095,0.000008150113,0.00008578476,0.00001089591,0.0004614816],"genre_scores_gemma":[0.9992843,0.00008166302,0.0002049174,0.00002408881,0.00001593619,0.000004536214,0.0001297579,0.000005133491,0.0002496387],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001296185,"threshold_uncertainty_score":0.004336178,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2220437070636546,"score_gpt":0.3867176090567068,"score_spread":0.1646739019930522,"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."}}