{"id":"W2566502421","doi":"10.1007/s00401-016-1656-8","title":"Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy","year":2016,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":136,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Agence Nationale pour le Développement de la Recherche en Santé; Université de Strasbourg; Institut National de la Santé et de la Recherche Médicale; Rosetrees Trust; Agence Nationale de la Recherche; University College London; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Centre National de la Recherche Scientifique; Myotubular Trust; Muscular Dystrophy Association; Fondation Maladies Rares; Association Française contre les Myopathies; National Institute for Health and Care Research","keywords":"RYR1; Ryanodine receptor; Central core disease; Malignant hyperthermia; Periodic paralysis; Skeletal muscle; Congenital myopathy; Biology; Sarcoplasm; Myopathy; Internal medicine; Endocrinology; Medicine; Endoplasmic reticulum; Muscle biopsy; Cell biology; Pathology; Paralysis; Biopsy","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":[0.0001443694,0.0001697411,0.0001195492,0.00004128628,0.00009985105,0.000018179,0.0001638643,0.0001418775,0.0003199143],"category_scores_gemma":[0.0003283089,0.0001085334,0.00009384353,0.00008052374,0.0001096483,0.000008264093,0.0001185681,0.00006122084,0.0002365275],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001098796,"about_ca_system_score_gemma":0.00001957699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.145183e-7,"about_ca_topic_score_gemma":8.603578e-7,"domain_scores_codex":[0.9988872,0.00012351,0.0001836715,0.0004338195,0.0001244232,0.0002473294],"domain_scores_gemma":[0.9993766,0.0000214969,0.00008189816,0.000338868,0.0000847327,0.0000964128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001225444,0.00004657607,0.001084532,0.00000172805,0.000007630064,0.00001505637,0.00001026499,0.000002181291,0.9853949,0.00005681631,0.008931179,0.004326572],"study_design_scores_gemma":[0.001107837,0.00119144,0.0122256,0.000009166102,0.00001957702,0.0001753102,0.00002151897,0.00003919301,0.5119228,0.00006799625,0.4728135,0.0004060437],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993369,0.0000884192,0.001212803,0.00135506,0.001077235,0.000139456,0.0000362297,0.00006913933,0.00265264],"genre_scores_gemma":[0.9933649,0.0002126703,0.0001081563,0.000674744,0.0007384478,0.00002011411,0.00006085007,0.00002588854,0.004794181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4734721,"threshold_uncertainty_score":0.4425862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01324352315420349,"score_gpt":0.2229415499231878,"score_spread":0.2096980267689843,"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."}}