{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts"],"consensus_categories":[],"category_scores_codex":[0.0003487089,0.0006596154,0.0004820508,0.0002347468,0.001488119,0.0003314928,0.000583793,0.00006070506,0.00007893368],"category_scores_gemma":[0.0002212615,0.0006368294,0.00009532124,0.0005014599,0.0004052535,0.000449718,0.0009424681,0.0003882961,0.000009084368],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008101912,"about_ca_system_score_gemma":0.0001092734,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004838842,"about_ca_topic_score_gemma":0.0005982028,"domain_scores_codex":[0.9943789,0.0009620718,0.0005695081,0.001896561,0.001267601,0.0009254131],"domain_scores_gemma":[0.9980702,0.0002123917,0.0002781675,0.000931263,0.0000598689,0.0004481187],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001058618,0.002920611,0.8231487,0.00006317437,0.0001512935,0.00008631121,0.004970996,0.002261541,0.1582859,0.0001558469,0.007200575,0.0006491536],"study_design_scores_gemma":[0.01077998,0.008880252,0.8957875,0.00004743141,0.0005069213,0.000006942606,0.03239403,0.001383068,0.04332824,0.002810614,0.003479305,0.0005957454],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958962,0.0006757402,0.00007355792,0.000174698,0.0003105056,0.002104895,0.0002330568,0.0001848461,0.000346492],"genre_scores_gemma":[0.9942092,0.0004066093,0.0002219317,0.003694268,0.00005940711,0.0005390363,0.00005109327,0.000124126,0.0006943134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1149577,"threshold_uncertainty_score":0.9998118,"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."}}