{"id":"W2970014172","doi":"10.1007/s00401-019-02059-z","title":"MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement","year":2019,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Alberta Children's Hospital; CARE Canada; University of Toronto; SickKids Foundation; Hospital for Sick Children; Children's Hospital of Eastern Ontario; University of Calgary","funders":"NIH Clinical Center; National Eye Institute; National Heart, Lung, and Blood Institute; Genome Alberta; Natural Sciences and Engineering Research Council of Canada; Alberta Children's Hospital Foundation; Ontario Genomics Institute; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; National Institute of Neurological Disorders and Stroke; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; National Institutes of Health; Children's Hospital Foundation; National Human Genome Research Institute; Alberta Children's Hospital Research Institute","keywords":"Muscular dystrophy; Mitochondrial DNA; Genetics; Medicine; Mutation; Mitochondrial myopathy; Biology; Neuroscience; Gene","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":[0.00010662,0.000992459,0.0003051159,0.0007583701,0.0004147512,0.00021371,0.000253769,0.0003971196,0.00157126],"category_scores_gemma":[0.0003993073,0.000197481,0.00025632,0.0005958626,0.0003644821,0.0001472984,0.0007056668,0.0001707147,0.0004190697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001853021,"about_ca_system_score_gemma":0.0001155355,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004436014,"about_ca_topic_score_gemma":0.0009398278,"domain_scores_codex":[0.9998349,0.00001213916,0.00002568929,0.00005446079,0.00005167729,0.00002096627],"domain_scores_gemma":[0.9997523,0.0000520709,0.0001117924,0.00001630106,0.00001492489,0.00005256284],"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":[0.001102954,0.0001307349,0.3028048,0.000516121,0.0003727356,0.06467049,0.001594508,0.0006844231,0.5840161,0.0005484512,0.0007074618,0.04285123],"study_design_scores_gemma":[0.00007061441,0.0006881466,0.6334432,0.00008556812,0.000283767,0.2835839,0.0003615472,0.0008386481,0.07242797,0.0003906657,0.007783158,0.00004282895],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970787,0.0007141347,0.0007898737,0.00002432221,0.000004183266,0.00001880407,0.0005652609,0.00003981429,0.000764937],"genre_scores_gemma":[0.9980958,0.0004092414,0.0004977272,0.0000164059,0.000006702152,0.000009283044,0.0005369805,0.000007719039,0.0004202316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00157126,"threshold_uncertainty_score":0.005256414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01208846409751831,"score_gpt":0.2247903733047739,"score_spread":0.2127019092072556,"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."}}