{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007236711,0.0001665514,0.0002353003,0.00006689261,0.0000263293,0.000001537074,0.0001985677,0.0003354376,0.0003628667],"category_scores_gemma":[0.0001704556,0.0001459429,0.00008712126,0.00006170254,0.0002426663,0.000003323656,0.00006652938,0.0002032903,0.00002578124],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001644434,"about_ca_system_score_gemma":0.0001481277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003931527,"about_ca_topic_score_gemma":0.0003210378,"domain_scores_codex":[0.9988142,0.000207521,0.0002244084,0.0003919566,0.0001005992,0.0002612931],"domain_scores_gemma":[0.9992634,0.0000248497,0.0001688171,0.0003494897,0.000127189,0.00006624363],"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":[0.003369089,0.0001145874,0.00246096,0.000004617537,0.00008641314,0.00003398045,0.0001679291,0.000003064605,0.9795157,0.0002965495,0.01379066,0.0001564631],"study_design_scores_gemma":[0.006610199,0.01817806,0.05123796,0.00001096422,0.0002299851,0.000439461,0.00001198896,0.00005595119,0.2519636,0.0002408045,0.6701455,0.0008755196],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822561,0.0005158961,0.0003094449,0.00007118456,0.004810317,0.0001784452,0.00001046928,0.0000290539,0.01181905],"genre_scores_gemma":[0.9928299,0.00003164572,0.0005090453,0.001742405,0.0004175946,0.00001875672,0.0001071629,0.00003626281,0.004307267],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7275521,"threshold_uncertainty_score":0.595138,"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."}}