{"id":"W4408318082","doi":"10.1055/s-0044-1801535","title":"Triple-A-Syndrom im Fokus: Klinische, molekulargenetische und proteomische Analysen neuromuskulärer Manifestationen in der weltweit größten Patientenkohorte","year":2025,"lang":"de","type":"article","venue":"Nervenheilkunde","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Medicine; Gynecology","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":[0.0002284982,0.000785761,0.0005256216,0.001678954,0.0008437588,0.0006752303,0.0002879894,0.001123097,0.003145794],"category_scores_gemma":[0.001519294,0.00024867,0.0003974601,0.0008235721,0.0004303107,0.0004615348,0.0007307958,0.0005667093,0.000483524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003264041,"about_ca_system_score_gemma":0.0004177592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002602742,"about_ca_topic_score_gemma":0.002020215,"domain_scores_codex":[0.9997638,0.00002152678,0.00003327986,0.0000593957,0.00005627334,0.00006576411],"domain_scores_gemma":[0.9995982,0.0001102577,0.00008629359,0.00001607972,0.00007448904,0.0001147257],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007935404,0.0001542125,0.3690148,0.0003206508,0.0002138373,0.5579415,0.002272407,0.000275086,0.04208328,0.0004641725,0.001821384,0.02464524],"study_design_scores_gemma":[0.00003597314,0.0004849866,0.3738507,0.0002082308,0.0002547859,0.607879,0.002830144,0.0005399231,0.007850279,0.0008234887,0.005179312,0.00006305936],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992537,0.002375775,0.000507381,0.0005318507,0.00006446757,0.0000290372,0.0004421366,0.00003488554,0.003477375],"genre_scores_gemma":[0.9971455,0.0008825372,0.0006664273,0.0002399379,0.00004372746,0.00001824635,0.0002245013,0.00001367534,0.0007654107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003145794,"threshold_uncertainty_score":0.01052368,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02618880753573231,"score_gpt":0.3149402236917129,"score_spread":0.2887514161559806,"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."}}