{"id":"W4318922869","doi":"10.1212/wnl.0000000000201626","title":"<i>DMD</i> Genotypes and Motor Function in Duchenne Muscular Dystrophy","year":2023,"lang":"en","type":"review","venue":"Neurology","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Daiichi Sankyo Europe; Great Ormond Street Institute of Child Health; Sanofi Genzyme; University Hospitals Bristol NHS Foundation Trust; Italfarmaco; University of Oxford; ProQR Therapeutics; University of Nottingham; Hospital for Sick Children; Leids Universitair Medisch Centrum; Eli Lilly and Company; Radboud Universiteit; Universiteit Leiden; Newcastle University; University College London; ZonMw; PTC Therapeutics; University of Cambridge; National Institute on Disability, Independent Living, and Rehabilitation Research; National Institute for Health and Care Research; U.S. Department of Defense; University Hospitals Plymouth NHS Trust; Silence Therapeutics; Audentes Therapeutics; Radboud Universitair Medisch Centrum; Great Ormond Street Hospital for Children; NHS Greater Glasgow and Clyde; Cincinnati Children's Hospital Medical Center; Sarepta Therapeutics; University Hospital Southampton NHS Foundation Trust; Oxford University Hospitals NHS Foundation Trust; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Astellas Pharma; Eisai; FibroGen; Cytokinetics; Parent Project Muscular Dystrophy; Cambridge University Hospitals; Vertex Pharmaceuticals; National Institutes of Health; University Hospitals Birmingham NHS Foundation Trust; BioMarin Pharmaceutical; Biogen; National Institute on Disability and Rehabilitation Research; Pfizer; BioClinica; Gilead Sciences; Sanofi; Bristol-Myers Squibb; Duchenne Parent Project; AveXis; GlaxoSmithKline","keywords":"Duchenne muscular dystrophy; Medicine; Genotype; Confounding; Ambulatory; Clinical trial; Internal medicine; Pediatrics; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00688923,0.0005007061,0.001200968,0.001015952,0.0002133315,0.001060286,0.0004409311,0.0005313602,0.001442088],"category_scores_gemma":[0.01074921,0.00022186,0.002741853,0.001472302,0.00030481,0.0002641877,0.0003836517,0.0003434914,0.0001231477],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004468066,"about_ca_system_score_gemma":0.0003585903,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003077098,"about_ca_topic_score_gemma":0.004114268,"domain_scores_codex":[0.9956488,0.002849654,0.0004654495,0.0007236248,0.000233132,0.00007932403],"domain_scores_gemma":[0.9866731,0.008331595,0.003546093,0.0009706033,0.0003478448,0.0001307413],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.017759,0.0001147736,0.7420906,0.009692379,0.1567154,0.0002485027,0.0001709391,0.003977153,0.002209431,0.0003864273,0.002127866,0.0645076],"study_design_scores_gemma":[0.0009110082,0.0008676427,0.9028165,0.00171201,0.08609051,0.0004065115,0.00007203572,0.001265623,0.0007440042,0.0006671755,0.004409906,0.0000371667],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.7702895,0.2154489,0.003200403,0.001038621,0.0001171771,0.0001273632,0.007577721,0.00007151021,0.002128855],"genre_scores_gemma":[0.9868507,0.008880338,0.001369096,0.0002562035,0.00009029391,0.00008014817,0.002204712,0.00001456018,0.0002538369],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.00688923,"threshold_uncertainty_score":0.03643411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04861835997623364,"score_gpt":0.3328451549978132,"score_spread":0.2842267950215795,"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."}}