{"id":"W4414431546","doi":"10.1093/braincomms/fcaf369","title":"Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency","year":2025,"lang":"en","type":"article","venue":"Brain Communications","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Allergy and Infectious Diseases; University of California, San Francisco; Allergan; Lily Foundation; Cerebral Palsy Alliance; Centro Singular de Investigación de Galicia; Victorian Brain Bank; Ipsen; Sun Pharma; European Academy of Neurology; Medical Research Council; Teva Pharmaceutical Industries; Department of Health and Social Care; Medical Research Council Canada; Alzheimer’s Research UK; Wellcome Trust; University College London; Guarantors of Brain; University of Oxford; Parkinson's UK; University College London Hospitals NHS Foundation Trust; National Institutes of Health; Rosetrees Trust; Dolby Family Ventures; American Parkinson Disease Association; Multiple System Atrophy Trust; University of Cambridge; Multiple System Atrophy Coalition; LifeArc; Newcastle upon Tyne Hospitals NHS Foundation Trust; National Institute for Health and Care Research; Michael J. Fox Foundation for Parkinson's Research; Parkinson's Foundation; Friedreich's Ataxia Research Alliance","keywords":"Dystonia; Neurodevelopmental disorder; Atrophy; Failure to thrive; Mitochondrial disease; Phenotype; Epilepsy; Basal ganglia; Intellectual disability; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001958048,0.0007214054,0.0002650726,0.0008266526,0.0004663481,0.000267069,0.0002678927,0.0005261159,0.002882136],"category_scores_gemma":[0.0005374106,0.0001749744,0.0002588311,0.0005489436,0.0003456542,0.000146571,0.0005046935,0.0003369779,0.0005891504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002131609,"about_ca_system_score_gemma":0.0001578644,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002038464,"about_ca_topic_score_gemma":0.00236882,"domain_scores_codex":[0.9997397,0.00002630045,0.00004540062,0.00009124722,0.00004929347,0.00004793386],"domain_scores_gemma":[0.9997646,0.00005666966,0.00007973348,0.0000128883,0.00002088537,0.00006520939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001506282,0.0003100995,0.4168653,0.0002065522,0.0003303551,0.1624442,0.0009158879,0.0004536283,0.3907384,0.0006612249,0.002180817,0.02338725],"study_design_scores_gemma":[0.00008551041,0.0007064654,0.7477624,0.00006006399,0.0001979289,0.2191212,0.0003463096,0.001026852,0.02602126,0.0003223119,0.004306786,0.00004284899],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977211,0.0002740591,0.0005306234,0.00007821364,0.00001175391,0.00002734491,0.0004867324,0.00003135387,0.000838801],"genre_scores_gemma":[0.9986105,0.00008777276,0.0005006178,0.00005356259,0.00001501652,0.000006679427,0.000333491,0.000007194034,0.0003851232],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002882136,"threshold_uncertainty_score":0.009641647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02105046246594406,"score_gpt":0.2853934373836751,"score_spread":0.2643429749177311,"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."}}