{"id":"W4414881428","doi":"10.1002/acn3.70211","title":"<i>SNUPN</i> ‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights","year":2025,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"NIHR Newcastle Biomedical Research Centre; Agencia Estatal de Investigación; Fundación Isabel Gemio; Ministerio de Ciencia e Innovación; Instituto de Salud Carlos III; National Institute for Health and Care Research; Ikerbasque, Basque Foundation for Science; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Eusko Jaurlaritza; European Commission","keywords":"Pathological; Phenotype; Duchenne muscular dystrophy; Inclusion body myositis; Organelle; Muscular dystrophy; Cell; Myositis","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001740264,0.0001132305,0.0002258635,0.00004111317,0.00006612467,0.000005956907,0.00004705217,0.0003226949,0.00002266121],"category_scores_gemma":[0.00009332166,0.00009274687,0.0001080636,0.00006465796,0.0003682721,0.00000613307,0.00003694954,0.0002002109,0.000001271615],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":6.588703e-8,"about_ca_system_score_gemma":0.00003575356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002998327,"about_ca_topic_score_gemma":0.00000464844,"domain_scores_codex":[0.9989168,0.000101138,0.0004252093,0.0003589707,0.00008344193,0.0001144104],"domain_scores_gemma":[0.9995844,0.00007153353,0.00007985756,0.000112116,0.00009517357,0.00005685753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0127432,0.001173486,0.2564409,0.0001906998,0.0009797189,0.00003209057,0.00006837823,0.0004045505,0.3902037,0.2613187,0.00158991,0.07485458],"study_design_scores_gemma":[0.001648632,0.0007250072,0.9300511,0.000007251958,0.00003273817,0.00002083422,0.000002173022,0.0002085169,0.002124468,0.02491197,0.04015172,0.0001156214],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919434,0.0007656647,0.00180919,0.004201395,0.0001929113,0.0001399104,0.00001627385,0.000008461984,0.0009228252],"genre_scores_gemma":[0.9965445,0.0001962984,0.0003254882,0.002621685,0.0001196124,0.000006182958,0.000061352,0.000006349083,0.0001184817],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6736102,"threshold_uncertainty_score":0.3782108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0377887227445614,"score_gpt":0.3095219131266793,"score_spread":0.2717331903821179,"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."}}