{"id":"W2253593797","doi":"10.1093/brain/awv362","title":"Autosomal recessive cerebellar ataxia caused by a homozygous mutation in<i>PMPCA</i>","year":2015,"lang":"en","type":"letter","venue":"Brain","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; McGill University; University of Ottawa; Montreal Neurological Institute and Hospital","funders":"","keywords":"Ataxia; Cerebellar ataxia; Mutation; Genetics; Cerebellar diseases; Cerebellum; Medicine; Biology; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0001976156,0.0003283054,0.0003296159,0.0001053107,0.0000482414,0.00003521039,0.0002561954,0.001578063,0.0001233499],"category_scores_gemma":[0.0003188837,0.0003395377,0.0001076083,0.0001331754,0.00008239011,0.00000389144,0.000088596,0.0007075928,0.0001494638],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004943031,"about_ca_system_score_gemma":0.0002468058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007656664,"about_ca_topic_score_gemma":0.000159878,"domain_scores_codex":[0.9979806,0.0003728241,0.000338755,0.0006924139,0.0002197877,0.0003956091],"domain_scores_gemma":[0.9990707,0.00004217353,0.000209573,0.0004889013,0.0001089109,0.00007975928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004847954,0.00002041406,0.00004098364,0.00003040707,0.00002890982,0.0005092126,0.00006510473,0.000006602838,0.05931966,0.000002081348,0.9394394,0.0004887206],"study_design_scores_gemma":[0.001060479,0.0002889906,0.00001678782,0.00002156285,0.00001933996,0.0001706858,0.0000198167,0.00001029241,0.005897146,0.00008633385,0.9920254,0.0003831884],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.07199109,0.007781228,0.004490454,0.8767224,0.01012202,0.003026718,0.002684073,0.0002459711,0.02293603],"genre_scores_gemma":[0.00228413,0.0001177876,0.0004777032,0.8709131,0.007895196,0.0001926845,0.02574273,0.0001754822,0.09220117],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.06970697,"threshold_uncertainty_score":0.9999056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01246320315679492,"score_gpt":0.2450856577196744,"score_spread":0.2326224545628794,"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."}}