{"id":"W3165008993","doi":"10.1038/s41591-021-01346-1","title":"Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis","year":2021,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":152,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; Hamilton Health Sciences; Health Sciences Centre","funders":"Congressionally Directed Medical Research Programs; National Institute of Neurological Disorders and Stroke; U.S. Department of Health and Human Services; National Institutes of Health; U.S. Department of Defense; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Human Genome Research Institute","keywords":"Amyotrophic lateral sclerosis; Sphingolipid; Biology; Phenotype; Allele; Motor neuron; Genetics; Disease; Neuroscience; Gene; Internal medicine; Medicine; Spinal cord","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","research_integrity","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0005280423,0.0005039143,0.001124105,0.0002555034,0.0002329293,0.00005262266,0.0003818586,0.0008197479,0.004307577],"category_scores_gemma":[0.002130889,0.0003620092,0.000221061,0.001218194,0.0003795321,0.0001782553,0.000203111,0.002378761,0.0001574844],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002898601,"about_ca_system_score_gemma":0.0002760804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001396677,"about_ca_topic_score_gemma":0.00002195765,"domain_scores_codex":[0.9954232,0.0002352776,0.0006490177,0.0009616198,0.001764217,0.0009666738],"domain_scores_gemma":[0.9971602,0.0003500282,0.0001520591,0.001025021,0.0005584305,0.0007542473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002951126,0.0008470289,0.01357346,0.0003846485,0.0005950117,0.0009294827,0.0006754671,0.000002958267,0.8534693,0.0002698015,0.1145921,0.01436566],"study_design_scores_gemma":[0.006778835,0.0006057963,0.8735422,0.002699293,0.0005365427,0.0003525903,0.0001174782,0.0001269405,0.07320031,0.0002214681,0.04115817,0.0006603905],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.927146,0.007347532,0.00004068188,0.06037489,0.0007491786,0.0004944738,0.00005095359,0.0002501655,0.003546187],"genre_scores_gemma":[0.9840383,0.00192668,0.0002650354,0.006947774,0.002120915,0.00007512817,0.0002413995,0.0001165912,0.004268164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8599687,"threshold_uncertainty_score":0.9999228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0187201622594793,"score_gpt":0.2855058433202054,"score_spread":0.2667856810607261,"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."}}