{"id":"W4288074845","doi":"10.1136/jnnp-2022-328921","title":"Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study","year":2022,"lang":"en","type":"article","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Endoplasmic Reticulum Stress and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Neurological Disorders and Stroke; National Institute on Aging; Roy J. and Lucille A. Carver College of Medicine, University of Iowa; Sorbonne Université; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Tays; National Center of Neurology and Psychiatry; Instituto de Salud Carlos III; Ohio State University; Göteborgs Universitet; National and Kapodistrian University of Athens; Medizinische Universität Wien; Faculdade de Medicina da Universidade de São Paulo; Institute of Genetics; University of Cincinnati; Universidade de São Paulo; Warszawski Uniwersytet Medyczny; KU Leuven; Johns Hopkins University; Università degli Studi di Padova; Research Institute, Nationwide Children's Hospital; Fudan University; Universitair Ziekenhuis Gent; Universität Wien; Nationwide Children's Hospital; Pusan National University; Universiteit Leiden; Huashan Hospital; Uniwersytet Warszawski; Universiteit Gent; University of Pennsylvania; Université de Versailles Saint-Quentin-en-Yvelines; Università degli Studi di Messina; Newcastle University; Assistance publique-Hôpitaux de Paris; Pécsi Tudományegyetem; University of Minnesota; Universidad de Chile; Institut National de la Santé et de la Recherche Médicale; University of Oxford","keywords":"Medicine; Frontotemporal dementia; Weakness; Dysautonomia; Retrospective cohort study; Genotype; Disease; Internal medicine; Age of onset; Muscle biopsy; Muscle weakness; Pediatrics; Dementia; Surgery; Genetics; Gene; Biology; Biopsy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0007621918,0.0004192996,0.0005039321,0.001459796,0.0005580899,0.0005941073,0.0002687248,0.0005149318,0.00173],"category_scores_gemma":[0.001865166,0.0004951688,0.0004340954,0.001048102,0.0004159916,0.0006261661,0.00049804,0.0004246034,0.0005895495],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003502646,"about_ca_system_score_gemma":0.0002711378,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002483448,"about_ca_topic_score_gemma":0.002174878,"domain_scores_codex":[0.9991193,0.0001628508,0.0001047661,0.0003431118,0.0001478997,0.0001219686],"domain_scores_gemma":[0.9986833,0.000332114,0.0003887871,0.0001799775,0.0001926106,0.0002231184],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001337585,0.00006206363,0.9974521,0.000008565193,0.00002710369,0.0004977752,0.0001592579,0.00002237197,0.000344842,0.00001146906,0.00004176175,0.001239063],"study_design_scores_gemma":[0.00001336548,0.0006923897,0.9953441,0.000006769674,0.00004223471,0.002874476,0.0002776168,0.0001198408,0.0001392552,0.00001806653,0.0004618234,0.00001006521],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992611,0.0001546843,0.0001082529,0.000005134655,0.000002713686,0.00001227874,0.0001519073,0.000003538682,0.0003004659],"genre_scores_gemma":[0.99926,0.00009233572,0.00008306401,0.0000191895,0.000008137862,0.00001416155,0.0003548294,0.000003368542,0.0001649364],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002483448,"threshold_uncertainty_score":0.005787432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006907333992660782,"score_gpt":0.235423447093352,"score_spread":0.2285161131006913,"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."}}