{"id":"W7108460278","doi":"10.4103/aomd.aomd_46_25","title":"SYNE1-related spastic-ataxia: A nuclear envelopathy beyond French Canadians","year":2025,"lang":"en","type":"article","venue":"Annals of Movement Disorders","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Phenotype; Spectrin; Population; Gene; Mutation; Narrative review; Ataxia; Cytoskeleton","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008327137,0.000133136,0.0001313354,0.0000864053,0.00007791561,0.00001120987,0.0001531459,0.0001276356,0.0001058078],"category_scores_gemma":[0.00004645212,0.0001368965,0.00009642173,0.0001486955,0.00007331995,0.000004328122,0.00006783268,0.00007511773,0.000009207482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006851176,"about_ca_system_score_gemma":0.00006501016,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002084919,"about_ca_topic_score_gemma":0.003567187,"domain_scores_codex":[0.9991785,0.00002400072,0.0002136204,0.0002536281,0.0001027759,0.0002275247],"domain_scores_gemma":[0.9995264,0.000005745974,0.00007305075,0.0002730561,0.00006317253,0.00005859548],"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":[0.0002195353,0.0003730977,0.01258214,0.0001662285,0.001159346,0.000006585706,0.0006968667,0.0005792789,0.3370214,0.01770772,0.5727219,0.05676591],"study_design_scores_gemma":[0.002474605,0.001687395,0.1300989,0.0001211822,0.0001625909,0.000001601553,0.001337823,0.0002881409,0.04686667,0.04611042,0.7698809,0.0009697975],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9631032,0.001037568,0.0002388413,0.00411908,0.00041254,0.0002267066,0.00005418599,0.00001768845,0.03079022],"genre_scores_gemma":[0.9914637,0.0004655595,0.00008947052,0.005848247,0.00002687322,0.0000059014,0.00009481711,0.00001707244,0.001988332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2901547,"threshold_uncertainty_score":0.5582476,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004955398837440755,"score_gpt":0.2232340771277407,"score_spread":0.2182786782902999,"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."}}