{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007257907,0.0006712855,0.0004080577,0.001269471,0.0002576411,0.0004748292,0.0002423024,0.0007939046,0.000715305],"category_scores_gemma":[0.000636904,0.0002360257,0.0003333287,0.0005796719,0.000413685,0.0002903601,0.0003859151,0.0006300219,0.0001851668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002599387,"about_ca_system_score_gemma":0.000160688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004223015,"about_ca_topic_score_gemma":0.0009038338,"domain_scores_codex":[0.9992173,0.0001152426,0.0001114305,0.000278606,0.0001970421,0.00008051094],"domain_scores_gemma":[0.9995171,0.00006848522,0.0002403385,0.00004775211,0.00004976351,0.00007650359],"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":[0.001262228,0.0001085683,0.09178618,0.0001750461,0.0001596376,0.0006848188,0.00009591312,0.0001209231,0.8978939,0.0001018771,0.00029221,0.007318715],"study_design_scores_gemma":[0.00007490375,0.001716834,0.723246,0.00008629809,0.0002581252,0.008260617,0.000217707,0.001425241,0.2595888,0.0004527604,0.004641064,0.00003162666],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926665,0.002328725,0.002889706,0.0001727486,0.00003512553,0.00005110476,0.001099434,0.0001251561,0.0006313838],"genre_scores_gemma":[0.9932208,0.0007419226,0.00379432,0.0002558813,0.00001748924,0.00009978927,0.001208052,0.00002321074,0.0006385378],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001269471,"threshold_uncertainty_score":0.00383842,"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."}}