{"id":"W3120439041","doi":"10.1111/nan.12694","title":"Molecular pathophysiology of human MICU1 deficiency","year":2021,"lang":"en","type":"article","venue":"Neuropathology and Applied Neurobiology","topic":"GDF15 and Related Biomarkers","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Leibniz-Gemeinschaft; European Research Council; Medical Research Council; Canadian Institutes of Health Research; Newton Fund; Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen; National Institute of General Medical Sciences; Bundesministerium für Bildung und Forschung; National Institutes of Health; Canada Research Chairs; Ataxia UK; Muscular Dystrophy Canada; Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen; Wellcome Trust; French Muscular Dystrophy Association; European Regional Development Fund; European Commission; Center for Scientific Review; Muscular Dystrophy Association","keywords":"Biology; Spectrin; Cell biology; Mitochondrion; Pathophysiology; Neuroscience; Cytoskeleton; Genetics; Endocrinology","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":[0.0001027013,0.0007922488,0.0002746151,0.0007551782,0.0001952874,0.0003011252,0.0002690214,0.0007868891,0.00166824],"category_scores_gemma":[0.0002838609,0.0001654212,0.0001458741,0.0002912445,0.00058594,0.0001949218,0.0002993756,0.000276297,0.0002700625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002990322,"about_ca_system_score_gemma":0.0001314275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004622578,"about_ca_topic_score_gemma":0.0001777262,"domain_scores_codex":[0.9999005,0.00002268525,0.000009932678,0.00002888024,0.0000212486,0.00001685042],"domain_scores_gemma":[0.9999009,0.00001739195,0.0000464122,0.000007021235,0.000008617229,0.00001967588],"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":[0.00153227,0.0001071394,0.04391477,0.0004437145,0.0000883004,0.1002147,0.0006085113,0.0007285576,0.8275083,0.002026722,0.00132315,0.02150389],"study_design_scores_gemma":[0.0002065643,0.001102639,0.3364679,0.00018891,0.0001735575,0.4717493,0.0006611924,0.005085564,0.1694446,0.002912885,0.01194012,0.00006682061],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953701,0.002455692,0.0007549291,0.0001967662,0.00001759377,0.00001891255,0.0001225083,0.0001041374,0.0009593636],"genre_scores_gemma":[0.998323,0.0005546016,0.0005944593,0.00004988966,0.00001487113,0.00001001249,0.0001015844,0.000006786458,0.0003446515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00166824,"threshold_uncertainty_score":0.005580842,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00743188390453855,"score_gpt":0.234503075100978,"score_spread":0.2270711911964395,"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."}}