{"id":"W4301595356","doi":"10.1007/s00401-022-02503-7","title":"Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy","year":2022,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institutes of Health; Stichting Spieren voor Spieren; AFM-Téléthon; Agence Nationale de la Recherche; Sorbonne Université; Prinses Beatrix Spierfonds; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Fondation Maladies Rares","keywords":"Oculopharyngeal muscular dystrophy; Muscle biopsy; Muscular dystrophy; Biology; Organelle; Chaperone (clinical); Biopsy; Pathology; Cell biology; Chemistry; Medicine; Genetics","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":[0.0004678422,0.0002947154,0.0004441818,0.0004683676,0.0003154062,0.0003081391,0.0001311849,0.000355978,0.0008754777],"category_scores_gemma":[0.0003226951,0.0001794455,0.0002220413,0.000276229,0.0002381792,0.0002554242,0.0003272032,0.000380061,0.0003563564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001621874,"about_ca_system_score_gemma":0.0001207493,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005453975,"about_ca_topic_score_gemma":0.0007957197,"domain_scores_codex":[0.9997599,0.0000360216,0.00002100434,0.00008953056,0.00006997475,0.00002361232],"domain_scores_gemma":[0.9996643,0.00006225225,0.00007145449,0.00005680573,0.00006695515,0.00007818323],"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":[0.001105764,0.0003265512,0.04396444,0.00007375923,0.0000938644,0.001393109,0.0002185868,0.0003762831,0.9467968,0.00006416275,0.0002807447,0.005305942],"study_design_scores_gemma":[0.0001374936,0.007951133,0.6733788,0.00004456919,0.000386026,0.02238508,0.0008454437,0.005716902,0.2798305,0.0001976597,0.009065415,0.00006102772],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975823,0.0006293595,0.001067701,0.00001851864,0.00001136314,0.00002127291,0.0003488393,0.00002210327,0.0002984121],"genre_scores_gemma":[0.9960111,0.0008355052,0.0009744774,0.00003887626,0.00001137924,0.00005295286,0.001308855,0.00002139301,0.0007453989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008754777,"threshold_uncertainty_score":0.002928734,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007934870766559143,"score_gpt":0.2513249674024488,"score_spread":0.2433900966358896,"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."}}