{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002444928,0.001388553,0.0005800895,0.001077195,0.0009282345,0.0006202408,0.0003783347,0.001151685,0.004202621],"category_scores_gemma":[0.0009901333,0.0004623812,0.0003024715,0.0008835972,0.001691912,0.0006415028,0.0006823796,0.00114054,0.000755479],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001030923,"about_ca_system_score_gemma":0.001001822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004597079,"about_ca_topic_score_gemma":0.002983345,"domain_scores_codex":[0.9996133,0.00005822246,0.00003733223,0.00007646195,0.00007786191,0.0001369414],"domain_scores_gemma":[0.9986222,0.0003885046,0.0005697457,0.00006787253,0.00009804777,0.0002536551],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00171441,0.0001537946,0.06955986,0.0003298584,0.0001144881,0.8489299,0.0006991759,0.0006602858,0.06577504,0.002837538,0.001936251,0.00728924],"study_design_scores_gemma":[0.0001790784,0.0004888195,0.1439135,0.0001169279,0.0002859469,0.8039302,0.0007894336,0.0007216062,0.04122918,0.0009344443,0.007365576,0.00004524811],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9824063,0.002487254,0.00120826,0.001174057,0.0001373597,0.00002622053,0.0004727017,0.0002149879,0.01187291],"genre_scores_gemma":[0.9967623,0.0006890862,0.0005004564,0.000118106,0.0001014623,0.000006129133,0.0001997091,0.00002655629,0.001596247],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004597079,"threshold_uncertainty_score":0.01405919,"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."}}