{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001520292,0.000188714,0.0001635974,0.00006788415,0.00007870553,0.00002160406,0.0001475895,0.00008248293,0.00001662444],"category_scores_gemma":[0.0001725058,0.0001628701,0.00006227002,0.0002213123,0.0000551787,0.000004598874,0.0001909822,0.0001073112,0.00004969721],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001180249,"about_ca_system_score_gemma":0.00004535252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001101965,"about_ca_topic_score_gemma":0.0003754642,"domain_scores_codex":[0.9987984,0.0001066638,0.000153355,0.0004237148,0.0001355523,0.000382275],"domain_scores_gemma":[0.9994874,0.00005340837,0.0000372843,0.00030873,0.00002448213,0.00008869793],"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":[0.0005172644,0.0001215004,0.00714698,0.00004827781,0.00006011614,0.0009417498,0.0001525396,0.0001319186,0.8315287,0.00002697368,0.1587616,0.0005623066],"study_design_scores_gemma":[0.00460457,0.006264909,0.8254833,0.00009342441,0.00004861775,0.0001575344,0.0004320601,0.00200199,0.008974704,0.0000335576,0.1507477,0.001157661],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975842,0.0001647666,0.00006064101,0.001263352,0.0002830948,0.0003261388,0.00008596028,0.00004301386,0.0001888695],"genre_scores_gemma":[0.9961617,0.00009157947,0.00003111119,0.0008730273,0.0004669041,0.00006085368,0.0001256422,0.00004669967,0.002142456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8225541,"threshold_uncertainty_score":0.6641649,"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."}}