{"id":"W2068242642","doi":"10.1212/wnl.0b013e3181c677e1","title":"INTERGENERATIONAL CONTRACTION OF THE CTG REPEATS IN 2 FAMILIES WITH MYOTONIC DYSTROPHY TYPE 1","year":2009,"lang":"en","type":"article","venue":"Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital de l'Enfant-Jésus","funders":"","keywords":"Myotonic dystrophy; Myotonia; Contraction (grammar); Muscular dystrophy; Medicine; Genetics; Trinucleotide repeat expansion; Endocrinology; Internal medicine; Biology; Gene; Allele","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003637386,0.002076215,0.0006652118,0.002143531,0.003637892,0.0007063046,0.0009547431,0.001299992,0.002622376],"category_scores_gemma":[0.002317544,0.0006836317,0.0006819184,0.00142119,0.001349023,0.0002816842,0.001143125,0.001033151,0.0003194815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003366041,"about_ca_system_score_gemma":0.001460242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1190293,"about_ca_topic_score_gemma":0.134057,"domain_scores_codex":[0.9992886,0.0001120416,0.00003793616,0.0001827027,0.0001572083,0.0002214955],"domain_scores_gemma":[0.9993834,0.000170627,0.0001336867,0.0000447788,0.0000912281,0.0001762483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005040347,0.0003552771,0.1834571,0.00009650831,0.0001416705,0.7742735,0.009473396,0.0005005652,0.009581118,0.001172598,0.00149509,0.01894906],"study_design_scores_gemma":[0.00009471228,0.000321892,0.2639705,0.00008897744,0.0001814518,0.7260445,0.001405184,0.0007761027,0.002485075,0.0002991421,0.004234015,0.00009838643],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995252,0.0006264933,0.0006581538,0.0003646988,0.00003188019,0.00005778639,0.0001964719,0.00003085199,0.002781668],"genre_scores_gemma":[0.9960518,0.0006706216,0.0008180715,0.000266028,0.00006173829,0.00003194716,0.0002909426,0.00001870373,0.001790123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1190293,"threshold_uncertainty_score":0.2366731,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01486215177648918,"score_gpt":0.2444713247629448,"score_spread":0.2296091729864556,"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."}}