{"id":"W4296793942","doi":"10.1002/mds.29221","title":"Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with <scp><i>DAB1</i></scp> and <scp><i>C9ORF72</i></scp> Repeat Expansions: An 18‐Year Study","year":2022,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Peter und Traudl Engelhorn Stiftung; Damp Stiftung; Deutsche Forschungsgemeinschaft","keywords":"C9orf72; Frontotemporal dementia; Amyotrophic lateral sclerosis; Spinocerebellar ataxia; Trinucleotide repeat expansion; Dementia; Ataxia; Neuroscience; Medicine; Psychology; Genetics; Pathology; Disease; Biology; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004059511,0.0007353314,0.0003831811,0.0007900787,0.001127527,0.0004650543,0.0003559267,0.0005451291,0.001218217],"category_scores_gemma":[0.0006804399,0.0004131638,0.0004380525,0.0007714439,0.0005020971,0.0005321141,0.0005530329,0.0005106671,0.0003245348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005832029,"about_ca_system_score_gemma":0.0004012723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0136052,"about_ca_topic_score_gemma":0.01014221,"domain_scores_codex":[0.9996979,0.00005252596,0.00002649633,0.00009921034,0.00004234464,0.00008156338],"domain_scores_gemma":[0.9995025,0.0000540705,0.0001421845,0.00003152659,0.00007742125,0.0001923177],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003432639,0.0003494573,0.9865979,0.00001185499,0.00008545655,0.008297335,0.0009626143,0.00004425258,0.0008839113,0.0000292878,0.0001947578,0.002199807],"study_design_scores_gemma":[0.00003707494,0.0004970109,0.9902035,0.000007587587,0.00006316147,0.008023895,0.0004356764,0.0001142202,0.00008043557,0.00002430929,0.0005044436,0.000008693763],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995694,0.00006991399,0.00003263972,0.00001345313,0.000002495128,0.000008141204,0.00007272645,0.000001808605,0.0002294888],"genre_scores_gemma":[0.9993932,0.00009746291,0.00004563927,0.00002369517,0.000008894428,0.000007981953,0.0002038037,0.000001544223,0.000217722],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0136052,"threshold_uncertainty_score":0.02705204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02418501055465086,"score_gpt":0.2318235032999256,"score_spread":0.2076384927452747,"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."}}