{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007350601,0.001065433,0.001317186,0.0008533364,0.0005509789,0.0004948881,0.001499723,0.0006211995,0.0005113355],"category_scores_gemma":[0.001931809,0.001003455,0.0008372677,0.002782896,0.0004749213,0.000537143,0.0008014784,0.001524528,0.0005957065],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001015922,"about_ca_system_score_gemma":0.0004538471,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004589377,"about_ca_topic_score_gemma":0.0001414938,"domain_scores_codex":[0.9907295,0.001815131,0.002023161,0.002557975,0.001133168,0.001741098],"domain_scores_gemma":[0.9964018,0.0004406642,0.0006795176,0.001578858,0.0002302108,0.0006689887],"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":[0.01029734,0.02331722,0.2542396,0.004181739,0.004456668,0.01681205,0.001851533,0.01067009,0.479794,0.04795513,0.0481233,0.09830134],"study_design_scores_gemma":[0.009413219,0.001531017,0.6739624,0.0004255386,0.003683512,0.00002744334,0.00008723461,0.0108068,0.02869711,0.006036,0.2632357,0.002093959],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9628893,0.01641851,0.0008969206,0.005351782,0.006140007,0.003852436,0.0006992361,0.0002454509,0.003506398],"genre_scores_gemma":[0.9819477,0.001783424,0.0006263715,0.009330617,0.0004366021,0.0005552927,0.0001390641,0.0001381916,0.005042803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4510969,"threshold_uncertainty_score":0.9992416,"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."}}