{"id":"W4308059427","doi":"10.1002/acn3.51687","title":"The clinical spectrum of <scp>SMA‐PME</scp> and in vitro normalization of its cellular ceramide profile","year":2022,"lang":"en","type":"review","venue":"Annals of Clinical and Translational Neurology","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Ceramide; Medicine; Progressive myoclonus epilepsy; SMA*; Sphingolipid; Internal medicine; Molecular biology; Biochemistry; Chemistry; Biology","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":[0.0002498411,0.0003146377,0.0002066513,0.0003326036,0.0001196082,0.0001905706,0.0001353035,0.0002747757,0.000747151],"category_scores_gemma":[0.0006216111,0.00008525345,0.0001248375,0.0002199356,0.0002566367,0.0001504816,0.0001632533,0.0002020356,0.0002462176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001547229,"about_ca_system_score_gemma":0.0001114293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002444411,"about_ca_topic_score_gemma":0.0002835101,"domain_scores_codex":[0.9998143,0.00004073018,0.00003372708,0.00004091077,0.00004777966,0.00002247025],"domain_scores_gemma":[0.9997413,0.00008181201,0.0000917525,0.00001773001,0.0000375896,0.00002988462],"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":[0.001105562,0.000107377,0.2394523,0.000416921,0.00007973029,0.04636385,0.0002366549,0.0003524285,0.677735,0.0001734665,0.0002758717,0.0337008],"study_design_scores_gemma":[0.00006748171,0.001634126,0.4524377,0.00006133442,0.000110288,0.3330896,0.000272601,0.0008637519,0.2070223,0.0001632622,0.00426129,0.00001614429],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9949237,0.002868666,0.0008581223,0.00006035322,0.000006751466,0.00001847496,0.0001054734,0.00002223004,0.001136309],"genre_scores_gemma":[0.9986682,0.0005695358,0.0004676611,0.00002479569,0.000009112451,0.000006970892,0.0001293926,0.0000027552,0.0001215065],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.000747151,"threshold_uncertainty_score":0.002499461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2124218580724454,"score_gpt":0.4603124171849309,"score_spread":0.2478905591124855,"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."}}