{"id":"W4408459915","doi":"10.1111/dmcn.16282","title":"Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy","year":2025,"lang":"en","type":"article","venue":"Developmental Medicine & Child Neurology","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institut Mérieux; Italfarmaco; Radboud Universitair Medisch Centrum; Sarepta Therapeutics; NHS Greater Glasgow and Clyde; Great Ormond Street Hospital for Children; Cambridge University Hospitals; University of Nottingham; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Muscular Dystrophy UK; University Hospitals Plymouth NHS Trust; University Hospitals Bristol NHS Foundation Trust; University of Cambridge; Sanofi; PTC Therapeutics; Leids Universitair Medisch Centrum; Universiteit Leiden; University Hospital Southampton NHS Foundation Trust; AveXis; Pfizer; Biogen; Radboud Universiteit; Great Ormond Street Institute of Child Health; Newcastle University; Alder Hey Children's NHS Foundation Trust; Hospital for Sick Children","keywords":"Duchenne muscular dystrophy; Dystrophin; Muscular dystrophy; Vital capacity; Population; Internal medicine; Medicine; Respiratory system; Group A; Upper limb; Physical medicine and rehabilitation; Physical therapy; Lung; Lung function; Diffusing capacity","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":[0.0006273435,0.000203041,0.0001977414,0.0004538606,0.0002479578,0.0002773936,0.0002870831,0.0003943874,0.001068587],"category_scores_gemma":[0.00158189,0.0001424481,0.0001892854,0.0004148216,0.0001883312,0.0002274802,0.0003026786,0.0002727151,0.0001215504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001946017,"about_ca_system_score_gemma":0.0001759176,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002602165,"about_ca_topic_score_gemma":0.003556566,"domain_scores_codex":[0.9997482,0.000071339,0.00003096788,0.0000830881,0.00003568514,0.00003074198],"domain_scores_gemma":[0.9989893,0.0001906432,0.0005756691,0.00005144297,0.00006434341,0.0001285875],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005728623,0.00001107808,0.9991775,0.000003952791,0.00001964574,0.00005208673,0.00001727019,0.00001935332,0.000187568,0.000003396077,0.00001306687,0.0004376222],"study_design_scores_gemma":[0.000001882452,0.00005394428,0.9995831,0.000002567223,0.000009510513,0.0002100406,0.00002620146,0.00004040918,0.00003956419,0.000004553531,0.00002734777,8.361095e-7],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997198,0.0001156675,0.00002628053,0.000007086062,7.723473e-7,0.000001131854,0.0000805144,9.112095e-7,0.00004789083],"genre_scores_gemma":[0.9997094,0.00003936328,0.00004835578,0.000006415989,0.000001658182,0.000002173603,0.0001313056,4.508651e-7,0.00006076684],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002602165,"threshold_uncertainty_score":0.005174041,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004425851062947874,"score_gpt":0.2143794006494714,"score_spread":0.2099535495865236,"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."}}