{"id":"W4400000778","doi":"10.1093/brain/awae201","title":"TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Norges Idrettshøgskole; Instituto Nacional del Cáncer; Muscular Dystrophy Association; National Institutes of Health; Rare Diseases Clinical Research Network; Rare Disease Foundation; Foundation for Clinical Research in Inflammatory Bowel Disease","keywords":"TRPV4; Medicine; Disease; Neuromuscular disease; Weakness; Atrophy; Scoliosis; Internal medicine; Surgery; Transient receptor potential channel","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008064065,0.0001290949,0.00008211804,0.00008297098,0.0001821848,0.0001671182,0.0001185443,0.00004713701,0.00008440277],"category_scores_gemma":[0.0002662066,0.0001021192,0.00007481481,0.0001900159,0.0001296021,0.000169736,0.0000564344,0.0001471721,0.0001163571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001243373,"about_ca_system_score_gemma":0.0000629533,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005765424,"about_ca_topic_score_gemma":0.000001668507,"domain_scores_codex":[0.9988995,0.00008043435,0.0001305871,0.0004484618,0.0002255308,0.0002154791],"domain_scores_gemma":[0.9994779,0.000161633,0.00002249744,0.0001394625,0.0000117746,0.0001867577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000103483,0.0004393766,0.00008234733,0.001065575,0.0000291901,0.007771664,0.001989942,0.0001068488,0.6583331,0.2217681,0.09660535,0.01170509],"study_design_scores_gemma":[0.0008189626,0.0003860233,0.006138276,0.0002684966,0.0000806356,0.0006026208,0.0001475886,0.01900047,0.07118656,0.008077849,0.8923031,0.0009893837],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9712288,0.0004874071,0.0002679625,0.02434613,0.001360833,0.0003161134,0.00007201792,0.0003146327,0.001606153],"genre_scores_gemma":[0.9873773,0.0001015917,0.00005360282,0.00068834,0.000316038,0.00002740077,0.000008796425,0.00002711423,0.01139979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7956978,"threshold_uncertainty_score":0.4164301,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01780138570904126,"score_gpt":0.2598598218002817,"score_spread":0.2420584360912404,"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."}}