{"id":"W4416059171","doi":"10.1093/braincomms/fcaf435","title":"NDPACX: a newly defined X-linked Parkinsonian syndrome associated with <i>SLC9A6</i> hemizygote mutation","year":2025,"lang":"en","type":"article","venue":"Brain Communications","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eisai Canada; Japan Agency for Medical Research and Development","keywords":"Neurodegeneration; Pathological; Substantia nigra; Parkinsonism; Corticobasal degeneration; Mutation; Endosome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000444597,0.000184006,0.0003340891,0.0002774092,0.0004585914,0.00006585556,0.000664213,0.0001538982,0.00007117252],"category_scores_gemma":[0.001965706,0.0001705017,0.00009800024,0.001502928,0.0003077519,0.0001182049,0.0002603664,0.0005192285,0.00006339444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003031142,"about_ca_system_score_gemma":0.0005649834,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004497964,"about_ca_topic_score_gemma":0.00129304,"domain_scores_codex":[0.9983495,0.0002985325,0.0003384843,0.0002843545,0.0003699083,0.0003592312],"domain_scores_gemma":[0.9963807,0.001103365,0.0001184536,0.001888386,0.0003664228,0.0001426026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004176149,0.02158973,0.3270892,0.001379891,0.01092672,0.002114425,0.01762715,0.0009984738,0.04001295,0.1303048,0.2786907,0.1650898],"study_design_scores_gemma":[0.02247695,0.001326596,0.7767064,0.002862173,0.0007761097,0.0006114742,0.002348288,0.01832377,0.000589643,0.005224663,0.1676063,0.001147678],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.733103,0.003392478,0.003245461,0.1579625,0.00007600425,0.002462779,0.00007093439,0.0007067914,0.09897998],"genre_scores_gemma":[0.9850203,0.0001422457,0.004034481,0.002884606,0.00000833263,0.0002467486,0.0005584096,0.00003630464,0.007068535],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4496171,"threshold_uncertainty_score":0.6952859,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03006950229192574,"score_gpt":0.3218904057758285,"score_spread":0.2918209034839028,"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."}}