{"id":"W3207605700","doi":"10.1016/j.nbd.2021.105532","title":"Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy","year":2021,"lang":"en","type":"review","venue":"Neurobiology of Disease","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut Universitaire en Santé Mentale de Québec","funders":"","keywords":"Myotonic dystrophy; Trinucleotide repeat expansion; Neuroscience; Hypotonia; Intellectual disability; Biology; Fragile X syndrome; Medicine; Bioinformatics; Genetics; Gene","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":[0.000299231,0.000450892,0.0005212086,0.0004654808,0.000151619,0.0004588917,0.0003553907,0.0006577164,0.0008258876],"category_scores_gemma":[0.0001747778,0.0001214621,0.0003948842,0.0002563078,0.0003670179,0.0004795232,0.0003451499,0.0007533715,0.0002681043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004255001,"about_ca_system_score_gemma":0.0004035683,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009077325,"about_ca_topic_score_gemma":0.001850309,"domain_scores_codex":[0.9999055,0.00002286139,0.00001307963,0.00002016418,0.00002052906,0.00001782802],"domain_scores_gemma":[0.9999412,0.00001395017,0.00001782043,0.000004259026,0.00001301873,0.000009748375],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008926093,0.000236541,0.007281271,0.01213284,0.0003030142,0.002751336,0.0004192042,0.001145002,0.6923022,0.006819571,0.006780874,0.2689355],"study_design_scores_gemma":[0.0001781324,0.003564272,0.1159523,0.003243936,0.001609949,0.01736355,0.001470487,0.003778671,0.5056306,0.01380861,0.3332415,0.0001579738],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1595138,0.821375,0.008142541,0.003110456,0.000399502,0.00009937271,0.0008301305,0.0001433036,0.006385936],"genre_scores_gemma":[0.276617,0.7088559,0.007171862,0.001466753,0.0003869857,0.0001663518,0.001151915,0.00002754737,0.004155647],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.0009077325,"threshold_uncertainty_score":0.003087223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07165416576717379,"score_gpt":0.3441059259367024,"score_spread":0.2724517601695287,"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."}}