{"id":"W1508659364","doi":"10.1002/mus.24332","title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","year":2014,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":426,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"National Center for Research Resources; National Institute of Neurological Disorders and Stroke; Medical Research Council; Muscular Dystrophy UK; PTC Therapeutics; Nationwide Children's Hospital; Children's Hospital of Philadelphia; National Institute for Health and Care Research; Muscular Dystrophy Association","keywords":"Nonsense mutation; Medicine; Placebo; Duchenne muscular dystrophy; Clinical endpoint; Internal medicine; Pediatrics; Surgery; Clinical trial; Mutation; Genetics; Biology; Pathology; Missense mutation","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":[0.000455635,0.0003627759,0.001412792,0.0001873664,0.000224599,0.0002208686,0.0003616181,0.0005016991,0.001971017],"category_scores_gemma":[0.0004713825,0.0001107484,0.0004969349,0.0001689724,0.0001517193,0.0002099704,0.0001349808,0.0005581508,0.000351058],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002271146,"about_ca_system_score_gemma":0.0002480893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002866403,"about_ca_topic_score_gemma":0.001178607,"domain_scores_codex":[0.9998227,0.0000846152,0.00002822233,0.00002403366,0.00001521974,0.00002520429],"domain_scores_gemma":[0.9998056,0.00004830379,0.00007171454,0.00001060906,0.0000151486,0.00004859747],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"nonrandomized_trial","study_design_scores_codex":[0.3491895,0.0152285,0.02213635,0.006353852,0.003346176,0.001936547,0.0004015293,0.001126171,0.1278678,0.0005360204,0.004359908,0.4675178],"study_design_scores_gemma":[0.2453914,0.5265074,0.1588651,0.0009867994,0.003828708,0.008071,0.0003875323,0.002514381,0.03326239,0.0004306497,0.01963742,0.0001172044],"study_design_candidate":"nonrandomized_trial","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.978057,0.01957995,0.0002251897,0.000203446,0.00007517968,0.0001931132,0.000217529,0.00006332775,0.001385292],"genre_scores_gemma":[0.9939768,0.004156669,0.0005845344,0.0002382939,0.00005406631,0.0001396222,0.000277782,0.000003824088,0.0005683688],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001971017,"threshold_uncertainty_score":0.006593645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004464462397514904,"score_gpt":0.2001503552323253,"score_spread":0.1956858928348104,"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."}}