{"id":"W2316538831","doi":"10.1017/s0317167100016607","title":"MELAS: A Multigenerational Impact of the <i>MTTL1 A3243G</i> MELAS Mutation","year":2014,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Children’s Health Research Institute; London Health Sciences Centre; Western University","funders":"Hospital for Sick Children","keywords":"Heteroplasmy; MELAS syndrome; Medicine; Encephalopathy; Pathological; Lactic acidosis; Mitochondrial disease; Non-Mendelian inheritance; Pediatrics; Family history; Stroke (engine); Pathology; Mitochondrial DNA; Genetics; Mitochondrial myopathy; Internal medicine; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0002087638,0.001059129,0.000334554,0.0007024475,0.0007976795,0.0004024543,0.000308749,0.0007818376,0.004057738],"category_scores_gemma":[0.0008878181,0.0002351311,0.0003850493,0.000472224,0.0005697257,0.0002817803,0.00058268,0.0006375037,0.0005580367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003371363,"about_ca_system_score_gemma":0.0002718686,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001366613,"about_ca_topic_score_gemma":0.001705206,"domain_scores_codex":[0.9998331,0.0000305157,0.0000178195,0.00005226068,0.00002609285,0.00004011955],"domain_scores_gemma":[0.9995648,0.0001162868,0.0001520894,0.00002906137,0.00002866353,0.0001091021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000383804,0.0001472765,0.1053015,0.00007061245,0.00008275706,0.8633677,0.0008369921,0.0001891878,0.01889941,0.0003852896,0.0007946242,0.009540927],"study_design_scores_gemma":[0.00002771704,0.0004928774,0.07582068,0.00004461356,0.00007859992,0.9181091,0.0002446306,0.000314162,0.003003253,0.0003046955,0.001538664,0.00002113969],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958776,0.0003976749,0.0006345616,0.000310927,0.00002698779,0.00002636948,0.0001618779,0.00005713708,0.00250683],"genre_scores_gemma":[0.9985096,0.0002152605,0.0003563267,0.0001161657,0.00003751201,0.000007562881,0.00007797415,0.00001384344,0.0006657024],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004057738,"threshold_uncertainty_score":0.01357448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01984896022480541,"score_gpt":0.2641172999104213,"score_spread":0.2442683396856158,"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."}}