{"id":"W2042774549","doi":"10.1007/s10048-010-0265-2","title":"Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1","year":2011,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Biology; Mutation; Leukoencephalopathy; Human genetics; Phenotype; Mitochondrial respiratory chain; Hypotonia; Respiratory chain; Genetics; Pathology; Disease; Mitochondrion; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004816582,0.003364962,0.001184502,0.001857931,0.001493976,0.000580747,0.001642655,0.00344663,0.003148795],"category_scores_gemma":[0.002813557,0.0006593035,0.0008380983,0.001359679,0.002078208,0.0007852071,0.0008743873,0.001734852,0.0006475309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009988962,"about_ca_system_score_gemma":0.0008946647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004115564,"about_ca_topic_score_gemma":0.002989112,"domain_scores_codex":[0.9996471,0.00004577926,0.00004805011,0.00008911111,0.00006718215,0.0001027615],"domain_scores_gemma":[0.9983177,0.000714516,0.0004292582,0.00008539974,0.0001129633,0.0003402438],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000469924,0.0000748074,0.005287894,0.00008792536,0.00004563449,0.9784588,0.0001479519,0.0002579454,0.01262896,0.0006222383,0.000343326,0.001574578],"study_design_scores_gemma":[0.0003056934,0.0005752143,0.03498962,0.00003062739,0.0002465557,0.942652,0.000204957,0.002553741,0.01539984,0.001263695,0.001703324,0.00007482293],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891478,0.0008301008,0.002463933,0.001128969,0.0002318578,0.0001044981,0.0004687823,0.0002335511,0.005390576],"genre_scores_gemma":[0.9972129,0.0001880078,0.00096326,0.0001660091,0.0002014089,0.00001881769,0.0001403309,0.0000241667,0.001085094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004115564,"threshold_uncertainty_score":0.01053375,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05197710144529449,"score_gpt":0.256098634683016,"score_spread":0.2041215332377215,"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."}}