{"id":"W4210875960","doi":"10.1093/brain/awac055","title":"NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill University; Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"European Regional Development Fund; National Institutes of Health; Wellcome Trust; Ministry of Science and Higher Education of the Russian Federation; Vlaamse regering; NIHR Cambridge Biomedical Research Centre; Skolkovo Institute of Science and Technology; Lily Foundation; Evelyn Trust; Warren Y. Soper Charitable Trust; Universiteit Antwerpen; Fondation Médicale Reine Elisabeth; Canada Research Chairs; Medical Research Council; Department of Health and Social Care; Ataxia UK; McGill University; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Jewish General Hospital; Muscular Dystrophy Association; Association Belge contre les Maladies Neuro-Musculaires; Canada Foundation for Innovation; Newton Fund; Fondation De Famille Alvin Segal; National Institute for Health and Care Research; Stoneygate Trust; Genome Canada; National Institute of Neurological Disorders and Stroke; Charcot-Marie-Tooth Association","keywords":"Neural cell adhesion molecule; Biomarker; Medicine; Disease; Cell; Bioinformatics; Internal medicine; Biology; Cell adhesion; Genetics","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":[0.0001192991,0.00009005053,0.000116544,0.00008785658,0.00007915902,0.000010033,0.000138446,0.00001896336,0.00009716646],"category_scores_gemma":[0.001579671,0.00008834241,0.00001962742,0.0002547115,0.0001638523,0.0000790638,0.0002587762,0.0001159078,0.000001930017],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001140932,"about_ca_system_score_gemma":0.00001681581,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004205888,"about_ca_topic_score_gemma":0.00001335785,"domain_scores_codex":[0.998831,0.0002770163,0.0001468303,0.0003515116,0.0002143118,0.0001792735],"domain_scores_gemma":[0.9992806,0.0004194082,0.00006363535,0.0001178481,0.000006005446,0.0001124827],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000740922,0.000512551,0.9667872,0.00007261659,0.00000412146,0.0001252242,0.0003145556,0.00005393738,0.02078996,0.000288107,0.003305804,0.007004993],"study_design_scores_gemma":[0.001143984,0.000228868,0.9929216,0.000005255714,0.000003302038,8.111374e-7,0.00006376888,0.0006658796,0.0002941698,0.0006709376,0.003880565,0.0001208934],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963725,0.00008869982,0.000001226718,0.002812163,0.00007533746,0.0002560825,0.0001817228,0.00001885545,0.000193439],"genre_scores_gemma":[0.9962645,0.00001383668,0.00000711902,0.003618603,0.000004647215,0.0000213331,0.000005131612,0.000009658619,0.00005518271],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02613435,"threshold_uncertainty_score":0.3602499,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01557931262990992,"score_gpt":0.2210674123569135,"score_spread":0.2054880997270036,"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."}}