{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001606736,0.0002464611,0.0001970797,0.00006585602,0.0001671869,0.00003807865,0.0002215256,0.0001672178,0.0002204171],"category_scores_gemma":[0.0001752146,0.0001992795,0.00009016613,0.0001523053,0.00009341443,0.000008248536,0.0001339507,0.0001922491,0.0003291726],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001302656,"about_ca_system_score_gemma":0.00006114069,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001218795,"about_ca_topic_score_gemma":0.000009218535,"domain_scores_codex":[0.9982972,0.0002460501,0.0002577061,0.0006863067,0.000184793,0.0003280133],"domain_scores_gemma":[0.9989552,0.00002780731,0.0001499311,0.0006242577,0.0001300211,0.000112807],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001416565,0.00009194588,0.01738223,0.00001810688,0.00002774918,0.0004427882,0.00005961701,0.0001595934,0.9806601,0.0002196876,0.0006663342,0.0001301869],"study_design_scores_gemma":[0.008746204,0.02086089,0.1109226,0.0001243043,0.0005398412,0.01730562,0.001101793,0.000194835,0.3285645,0.0006481548,0.5077487,0.003242606],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887156,0.00006747962,0.001125283,0.0003262568,0.0006079002,0.0004703896,0.00001520784,0.00006859877,0.008603213],"genre_scores_gemma":[0.9935266,0.0000736334,0.001864891,0.001976365,0.0002205683,0.00004700499,0.0002282701,0.0000412539,0.002021465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6520956,"threshold_uncertainty_score":0.812638,"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."}}