{"id":"W1985046941","doi":"10.1371/journal.pgen.1001118","title":"Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss","year":2010,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; McGill University; Centre Hospitalier Universitaire Sainte-Justine; University of Calgary; Université de Montréal","funders":"Kyowa Hakko Kirin; Institut National de la Santé et de la Recherche Médicale","keywords":"HEXA; Tay-Sachs disease; Ganglioside; Sandhoff disease; Biology; Hexosaminidase; Lysosomal storage disease; Knockout mouse; Sialidase; Endocrinology; Internal medicine; Immunology; Genetics; Neuraminidase; Gene; Medicine; Disease; Biochemistry","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001765655,0.0002701848,0.0003679715,0.0002556468,0.00009862107,0.0000843968,0.0001536813,0.0001677795,0.0001740483],"category_scores_gemma":[0.0005501292,0.0002494569,0.00005032756,0.000291678,0.0004587744,0.00006768486,0.0002354426,0.000676039,0.00002500227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002614459,"about_ca_system_score_gemma":0.0001254931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001897959,"about_ca_topic_score_gemma":0.0001165997,"domain_scores_codex":[0.9978747,0.0000813604,0.0003416657,0.0005812971,0.0005554054,0.0005655288],"domain_scores_gemma":[0.9987184,0.0002249378,0.00007431942,0.0003997938,0.000146753,0.0004357868],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007789409,0.001973835,0.5174688,0.0007229823,0.00008189321,0.001321917,0.001460134,0.00002610312,0.4510775,0.0001042051,0.0003102719,0.02467345],"study_design_scores_gemma":[0.01218099,0.003224766,0.8383498,0.000196987,0.0003526174,0.001362673,0.0008282782,0.04315666,0.09403905,0.0002149208,0.005032816,0.00106042],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954598,0.001475506,0.000006119841,0.001680843,0.0001205632,0.0006662711,0.00002700793,0.00004210411,0.0005218094],"genre_scores_gemma":[0.9981475,0.0004340149,0.0005231201,0.0005093733,0.0001369639,0.00004149485,0.00001909145,0.00004497836,0.000143446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3570384,"threshold_uncertainty_score":0.9999958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03236438476171213,"score_gpt":0.2871552903635898,"score_spread":0.2547909056018777,"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."}}