{"id":"W4321369966","doi":"10.1016/j.ajhg.2023.01.019","title":"Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; National Eye Institute; York University; Montana State University; National Institute of Neurological Disorders and Stroke; University of Tennessee; PTC Therapeutics; Massachusetts General Hospital","keywords":"Ataxia; Retinal degeneration; Biology; Phenotype; RNA splicing; Exon; Alternative splicing; Neuroscience; Degeneration (medical); Cell biology; Genetics; Medicine; Pathology; Gene; Retina","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":[0.0002892237,0.0001234016,0.0003015525,0.0001403051,0.00007823507,0.00001226943,0.0002772163,0.00002041609,0.000004444477],"category_scores_gemma":[0.00004781143,0.00008469879,0.00004271186,0.0001912362,0.0004046164,0.00006245436,0.00006429332,0.0001103379,9.269056e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004148181,"about_ca_system_score_gemma":0.0001167379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001846043,"about_ca_topic_score_gemma":0.0001179253,"domain_scores_codex":[0.9986496,0.0002619182,0.0004813039,0.000163189,0.0002622037,0.0001818018],"domain_scores_gemma":[0.9992158,0.00007474848,0.0004276178,0.0001800933,0.00003467491,0.00006700664],"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":[0.000293215,0.0001367497,0.00248113,0.000005730627,0.000008130415,0.000008939975,0.003110874,0.02767752,0.9525251,0.00004533508,0.0000111098,0.01369618],"study_design_scores_gemma":[0.00125452,0.005179825,0.06822059,0.00001987214,0.00004147925,0.00001795737,0.001485497,0.04446505,0.877817,0.00124719,0.00004174975,0.0002092303],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996095,0.00002790323,0.0001016497,0.00008531151,0.00002407187,0.0001143442,0.00001107943,0.000008670716,0.00001743562],"genre_scores_gemma":[0.9962344,0.000179408,0.003432786,0.00008863166,0.00002227581,0.000002956205,0.000001588178,0.00001381742,0.00002419326],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07470804,"threshold_uncertainty_score":0.3453916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09276632715526505,"score_gpt":0.3045360145737425,"score_spread":0.2117696874184774,"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."}}