{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001693596,0.001074464,0.0006757987,0.0005801147,0.0003270448,0.0005554784,0.0004646621,0.001233124,0.002302464],"category_scores_gemma":[0.000552081,0.0001691659,0.0003839175,0.0002835477,0.0005583128,0.0002506153,0.0005330546,0.0006420063,0.001082235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003452891,"about_ca_system_score_gemma":0.000156836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009586817,"about_ca_topic_score_gemma":0.0009801358,"domain_scores_codex":[0.9997863,0.00002692459,0.00002289388,0.00007610992,0.0000466893,0.00004102668],"domain_scores_gemma":[0.9996887,0.00007272472,0.00009523088,0.0000134425,0.00004155876,0.0000883292],"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":[0.0004842354,0.00005266714,0.0170566,0.0004639721,0.0001982356,0.874953,0.0002486915,0.000129425,0.06904904,0.00140527,0.01846603,0.01749274],"study_design_scores_gemma":[0.00005025445,0.0001425128,0.01985061,0.0001288563,0.0001855788,0.9218139,0.0001127561,0.0005863925,0.01880487,0.0004447912,0.03784213,0.00003726141],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9254925,0.02654288,0.006385331,0.009973061,0.005407247,0.0001204363,0.001560969,0.0009846053,0.02353292],"genre_scores_gemma":[0.980991,0.005865137,0.001924738,0.001510461,0.004025552,0.00001706896,0.0004424669,0.0001041381,0.005119583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002302464,"threshold_uncertainty_score":0.007702529,"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."}}