{"id":"W4376225084","doi":"10.1093/brain/awad158","title":"Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute for Health and Care Research; Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; National Institute of Neurological Disorders and Stroke; Medical Research Council; Muscular Dystrophy Association","keywords":"Coenzyme Q10; Mitochondrion; Biology; Oxidative phosphorylation; Internal medicine; Mitochondrial disease; Motor neuron; Phenotype; Endocrinology; Neurofilament; Mitochondrial DNA; Genetics; Biochemistry; Medicine; Gene; Disease","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":[0.0001752397,0.001345962,0.0003925887,0.0009167237,0.0004740843,0.0002209996,0.0003640947,0.000648886,0.00215129],"category_scores_gemma":[0.0005321162,0.0002716804,0.0001647546,0.0005368561,0.0005293188,0.0001130956,0.0005762906,0.0003304525,0.0003432822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003254172,"about_ca_system_score_gemma":0.0002117406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002676451,"about_ca_topic_score_gemma":0.00501426,"domain_scores_codex":[0.9997049,0.00005143531,0.00002810641,0.00008443603,0.00008401147,0.00004705812],"domain_scores_gemma":[0.9997554,0.00006111766,0.00007312642,0.00001375698,0.00002980842,0.00006672024],"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":[0.00153568,0.000444124,0.1398964,0.0002982313,0.0004790839,0.2309198,0.001210582,0.0003806429,0.6052314,0.0007943659,0.0009843385,0.01782522],"study_design_scores_gemma":[0.0001365717,0.001296612,0.5671772,0.0001031806,0.000462344,0.3831488,0.000676505,0.001193265,0.04150014,0.0006684793,0.003580613,0.00005620414],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978701,0.0004474295,0.0005953388,0.00007122062,0.00001109189,0.00001974629,0.0001435932,0.000021162,0.0008203578],"genre_scores_gemma":[0.9987817,0.0002072808,0.0003605396,0.00004686841,0.000008484745,0.000007099337,0.0001212971,0.00001098854,0.0004557448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002676451,"threshold_uncertainty_score":0.007196724,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01052351118704299,"score_gpt":0.2327243370151902,"score_spread":0.2222008258281472,"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."}}