{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001469988,0.001097607,0.0002287068,0.0004347668,0.0001666583,0.0002258811,0.0002864785,0.0005307245,0.001334728],"category_scores_gemma":[0.0001405521,0.0001063042,0.0002798332,0.0002152308,0.0003771581,0.0001854534,0.000330991,0.0003165712,0.0004324598],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002141514,"about_ca_system_score_gemma":0.0001071974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003008506,"about_ca_topic_score_gemma":0.0003223747,"domain_scores_codex":[0.9999237,0.00001243135,0.00001123358,0.00002310519,0.00001671735,0.00001282612],"domain_scores_gemma":[0.9999173,0.0000104009,0.00003259648,0.000006102978,0.00001222273,0.00002139881],"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":[0.0007833227,0.0001727623,0.03506367,0.0003978046,0.0001160658,0.1208394,0.0002185224,0.0007493034,0.8196046,0.001387839,0.001720835,0.01894587],"study_design_scores_gemma":[0.0001293229,0.0009473551,0.198211,0.0001573536,0.0002613899,0.5353938,0.0002793636,0.005085979,0.2315974,0.002029489,0.02585443,0.00005314457],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901451,0.002272366,0.003910204,0.0002910109,0.00003940823,0.00003420041,0.0004019233,0.0001781644,0.00272765],"genre_scores_gemma":[0.9933704,0.001267823,0.003145602,0.0001568665,0.00005928003,0.00002293571,0.0006947151,0.00002448066,0.001257855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001334728,"threshold_uncertainty_score":0.004465103,"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."}}