{"id":"W2121587342","doi":"10.1093/brain/awp325","title":"SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis","year":2010,"lang":"en","type":"article","venue":"Brain","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":263,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"Consiglio Nazionale delle Ricerche; Ministero della Salute; Canada Excellence Research Chairs, Government of Canada; Wellcome Trust","keywords":"Hereditary spastic paraplegia; Amyotrophic lateral sclerosis; Corpus callosum; Medicine; Pathology; Mutation; Genetics; Biology; Disease; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001789935,0.0006656284,0.0003358209,0.0005220425,0.0003587883,0.0001678946,0.0001699217,0.0002633651,0.0009947409],"category_scores_gemma":[0.0004557058,0.0001755523,0.0001805296,0.0003120706,0.0004111833,0.00009939451,0.0003120021,0.0001780437,0.0002424949],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003447864,"about_ca_system_score_gemma":0.0002896868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002346883,"about_ca_topic_score_gemma":0.004482495,"domain_scores_codex":[0.9998036,0.00003052312,0.00002461896,0.00004131882,0.00006168333,0.00003818011],"domain_scores_gemma":[0.9997808,0.00004325647,0.00009046809,0.00001367702,0.00001950085,0.00005218021],"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":[0.001658203,0.0003495406,0.3512125,0.0002949472,0.0003956592,0.2116927,0.001642556,0.0007410476,0.4015445,0.0005129035,0.00117147,0.02878401],"study_design_scores_gemma":[0.0001647041,0.001201666,0.7508743,0.00005273193,0.0002250906,0.2169755,0.0004782796,0.0007438363,0.02551617,0.0003965111,0.003335118,0.00003619895],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992482,0.0002302778,0.0001169446,0.00001169884,0.000002369707,0.000006268117,0.00003885371,0.00001369109,0.0003315706],"genre_scores_gemma":[0.9993135,0.000176974,0.0001422566,0.00002062906,0.000006185117,0.00000385871,0.00007270283,0.000003850813,0.0002602146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002346883,"threshold_uncertainty_score":0.004666448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04428999789423352,"score_gpt":0.2719914424342819,"score_spread":0.2277014445400484,"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."}}