{"id":"W1964507575","doi":"10.1212/wnl.0b013e31823a0c7f","title":"Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype","year":2011,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":176,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"National Center for Research Resources; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Georgia Clinical and Translational Science Alliance","keywords":"Mitochondrial encephalomyopathy; Natural history; Natural history study; Mitochondrial disease; Medicine; Lactic acidosis; MELAS syndrome; Genetic testing; Prospective cohort study; Pediatrics; Cohort; Internal medicine; Mitochondrial DNA; Mitochondrial myopathy; Biology; Genetics","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004730005,0.0002455621,0.0002591896,0.0005603469,0.0004688972,0.0003710144,0.0002646756,0.0003761128,0.0008170568],"category_scores_gemma":[0.002193128,0.0001736693,0.0002943964,0.0003202329,0.0003483702,0.0004502132,0.0003102654,0.0003915581,0.0001740144],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002992118,"about_ca_system_score_gemma":0.0001904299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002282727,"about_ca_topic_score_gemma":0.002075597,"domain_scores_codex":[0.9997224,0.00007648006,0.00002254318,0.0000764248,0.00004620445,0.00005594931],"domain_scores_gemma":[0.9985562,0.0002089737,0.0007150763,0.00007193961,0.0001161262,0.0003316916],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002093215,0.00002658781,0.9972518,0.000002696156,0.00001764425,0.0009566287,0.00006657124,0.0000612063,0.0005314983,0.00000977748,0.00005784489,0.0008083734],"study_design_scores_gemma":[0.000008702156,0.0002724117,0.9944134,0.000005731065,0.00001579291,0.004660352,0.0001355797,0.000240479,0.0001313219,0.00002596413,0.00008383371,0.000006475205],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996492,0.0000892793,0.00004706878,0.00002119326,0.000001724755,0.000003240444,0.00006938267,0.00000270421,0.00011628],"genre_scores_gemma":[0.9997424,0.00002497904,0.00003047172,0.00001012821,0.000004371578,0.000002348054,0.0001388457,9.046935e-7,0.00004545693],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002282727,"threshold_uncertainty_score":0.004538894,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.014825654968692,"score_gpt":0.1977201291387855,"score_spread":0.1828944741700935,"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."}}