{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001184622,0.0005458782,0.00194847,0.000334415,0.0003490686,0.00007351861,0.0002401681,0.0001255455,0.000007485318],"category_scores_gemma":[0.0004328106,0.000363907,0.0006728777,0.0005619897,0.0002746766,0.00009951521,0.0007153502,0.0006706914,7.963662e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008527484,"about_ca_system_score_gemma":0.0004852977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001722829,"about_ca_topic_score_gemma":0.000001506785,"domain_scores_codex":[0.9960963,0.0008301272,0.0009732053,0.000890202,0.0007482298,0.0004619257],"domain_scores_gemma":[0.998126,0.000132919,0.0004562276,0.0008547035,0.0002569511,0.0001731593],"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":[0.0000201426,0.0001434924,0.000007849916,0.1020274,0.0001374969,0.00006896705,0.0001083516,4.007669e-7,0.004758536,0.00001047496,0.00002305695,0.8926938],"study_design_scores_gemma":[0.001189961,0.0003471608,0.0003763385,0.1877151,0.001096828,0.0001117563,0.00003608812,0.00001640635,0.0003389174,0.0000734586,0.8083009,0.0003971147],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02886173,0.9653127,0.0002971603,0.000270691,0.0001032459,0.005088511,0.00004143186,0.00002003172,0.000004489388],"genre_scores_gemma":[0.0009105922,0.9962028,0.001280824,0.00005030955,0.0001088435,0.001174946,0.0001596893,0.00009002577,0.00002193959],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8922967,"threshold_uncertainty_score":0.9998813,"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."}}