{"id":"W4291021590","doi":"10.1007/s00401-022-02475-8","title":"Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons","year":2022,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Wilfrid Laurier University; Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Université Paris Descartes; AFM-Téléthon; Canada Research Chairs; Agence Nationale de la Recherche; Muscular Dystrophy Canada; Société Francophone du Nerf Périphérique; Fondation pour la Recherche Médicale; Canada Foundation for Innovation; French Muscular Dystrophy Association","keywords":"Agrin; Biology; Neuromuscular junction; Cell biology; Myogenesis; Secretion; Endoplasmic reticulum; Mutation; Internal medicine; Endocrinology; Myocyte; Neuroscience; Genetics; Acetylcholine receptor; Gene; Medicine","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":[0.0002490401,0.0002184267,0.0002731188,0.000114314,0.0005535065,0.00003634448,0.0002199461,0.00005657521,0.000836621],"category_scores_gemma":[0.0003186783,0.0002046463,0.0001525762,0.0004019022,0.0001335643,0.00005919715,0.000291611,0.0006842937,0.00004320174],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005159088,"about_ca_system_score_gemma":0.00006969611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000113673,"about_ca_topic_score_gemma":9.098272e-7,"domain_scores_codex":[0.997527,0.0006472484,0.0002443763,0.0005776106,0.000541927,0.0004618572],"domain_scores_gemma":[0.9990921,0.0001916254,0.00008976565,0.000392387,0.00005156112,0.0001825429],"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":[0.0001128305,0.0007141199,0.007928071,0.00004697009,0.00005794684,0.001836002,0.0003359471,0.00005004943,0.9698558,0.00001195761,0.01616445,0.002885876],"study_design_scores_gemma":[0.02345341,0.03194282,0.4576319,0.00009529352,0.001644648,0.05667401,0.009258233,0.006736644,0.05475052,0.0004691609,0.3530228,0.004320567],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945421,0.0004360817,0.0000622058,0.001575209,0.0001343637,0.0008900969,0.0001693286,0.0001893262,0.002001297],"genre_scores_gemma":[0.9957781,0.0001301727,0.00003416232,0.0009137912,0.00002039765,0.0001869074,0.000336279,0.00005511514,0.002545092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9151053,"threshold_uncertainty_score":0.9160414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02083720485047669,"score_gpt":0.2730725339658052,"score_spread":0.2522353291153285,"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."}}