{"id":"W3167186946","doi":"10.1007/s40259-021-00486-7","title":"Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy","year":2021,"lang":"en","type":"review","venue":"BioDrugs","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Women and Children's Health Research Institute","keywords":"Spinal muscular atrophy; Duchenne muscular dystrophy; SMA*; Exon skipping; Medicine; Dystrophin; Neuromuscular disease; Muscular dystrophy; Antisense therapy; Motor neuron; Weakness; Bioinformatics; Genetic enhancement; Exon; Internal medicine; Disease; Biology; Surgery; Genetics; Gene; microRNA; Alternative splicing","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009757669,0.0009053741,0.002602758,0.002297925,0.000204144,0.001186285,0.001042198,0.001266299,0.003375878],"category_scores_gemma":[0.001131295,0.00035065,0.00102011,0.002163436,0.0004404179,0.001209366,0.0006016275,0.001804416,0.001196094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004353566,"about_ca_system_score_gemma":0.001043002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009668929,"about_ca_topic_score_gemma":0.002097021,"domain_scores_codex":[0.9997439,0.00004389144,0.00006107378,0.00004443636,0.00008504173,0.00002172223],"domain_scores_gemma":[0.9993594,0.0004503902,0.00007626427,0.00001095725,0.00007789032,0.00002505267],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002239709,0.00009256473,0.0001619465,0.06819502,0.0003152736,0.0002380282,0.00006806769,0.000366096,0.002950395,0.001869954,0.01791592,0.9076027],"study_design_scores_gemma":[0.0001264122,0.0003327832,0.001210287,0.01681445,0.001273278,0.001770599,0.00008826651,0.0001623477,0.001149182,0.00147209,0.9755532,0.00004719212],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006250155,0.9995658,0.00006045656,0.00006010543,0.00005957407,0.000003408122,0.00001696372,0.000003007754,0.0001680887],"genre_scores_gemma":[0.0003012544,0.9992326,0.0001380826,0.0001156487,0.00004608823,0.00000520657,0.00002672543,9.53879e-7,0.0001333672],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003375878,"threshold_uncertainty_score":0.01129347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0616848120403912,"score_gpt":0.4081047040783568,"score_spread":0.3464198920379656,"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."}}