{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001491731,0.001605297,0.0005014461,0.001235967,0.0008850953,0.0003929016,0.0006591022,0.001561229,0.007782105],"category_scores_gemma":[0.001414845,0.0002538922,0.0003321625,0.0007403162,0.001342717,0.0006025249,0.0006007837,0.0009379132,0.0009711934],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006456407,"about_ca_system_score_gemma":0.0005179543,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003037207,"about_ca_topic_score_gemma":0.0028461,"domain_scores_codex":[0.9997075,0.0000229182,0.00002610089,0.0001304364,0.00006242099,0.000050587],"domain_scores_gemma":[0.9994304,0.0002385032,0.0001243805,0.0000369956,0.00004899401,0.0001207571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002016632,0.00003746074,0.01009403,0.0002431512,0.00004702888,0.9474347,0.0001983727,0.0002469072,0.02655822,0.001624914,0.001368387,0.01194509],"study_design_scores_gemma":[0.00005371456,0.0001953795,0.04636959,0.00006087493,0.00009936731,0.9396594,0.0001045229,0.0006145114,0.008686959,0.0008916105,0.003233827,0.00003024223],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9470133,0.006754128,0.00440903,0.003813567,0.0006237014,0.000103361,0.001436322,0.0007662007,0.03508033],"genre_scores_gemma":[0.9929001,0.0009342018,0.000883947,0.0003013402,0.0002101278,0.00001384245,0.00009894591,0.00004058026,0.004617017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007782105,"threshold_uncertainty_score":0.0260337,"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."}}