{"id":"W4311289066","doi":"10.1242/dmm.049802","title":"Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy","year":2022,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; University of Texas Southwestern Medical Center","keywords":"Lafora disease; Progressive myoclonus epilepsy; Myoclonus; Neuroscience; Epilepsy; Glycogen; Medicine; Physical medicine and rehabilitation; Biology; Psychology; Endocrinology; Genetics","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":[0.0001991983,0.000418955,0.0003203844,0.0003601194,0.0002108611,0.0002882421,0.0003512122,0.0005842987,0.001314105],"category_scores_gemma":[0.0001263516,0.0001769337,0.0002250171,0.0001453834,0.0004173764,0.0003097446,0.0002619752,0.000597038,0.0003212877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00046109,"about_ca_system_score_gemma":0.0002187929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005144986,"about_ca_topic_score_gemma":0.001611599,"domain_scores_codex":[0.9998683,0.00003670229,0.00001358768,0.00002044435,0.00002501346,0.00003599285],"domain_scores_gemma":[0.9999264,0.00001347056,0.00002162975,0.000006320879,0.000003925195,0.00002826493],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003408026,0.0001417577,0.0003984698,0.00005630485,0.00001293465,0.0004159806,0.00002469995,0.0001064258,0.9953656,0.0002778742,0.000181521,0.002677636],"study_design_scores_gemma":[0.0002228296,0.00225248,0.006397282,0.00001770868,0.00005427193,0.001968557,0.00008746028,0.002340752,0.9815212,0.0001487236,0.004978679,0.00001004896],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933701,0.001369548,0.002324949,0.0005604519,0.00006196528,0.00005721436,0.000182925,0.0001060936,0.001966878],"genre_scores_gemma":[0.9936812,0.0008937075,0.00193402,0.0001717518,0.00001965738,0.00005455536,0.0003079527,0.00002176519,0.002915299],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001314105,"threshold_uncertainty_score":0.004396141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01786095489105609,"score_gpt":0.2624809826352859,"score_spread":0.2446200277442298,"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."}}