{"id":"W2403991458","doi":"10.1093/brain/aww115","title":"Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum","year":2016,"lang":"en","type":"letter","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Ataxia; Missense mutation; Genetics; Amyotrophic lateral sclerosis; Cerebellar ataxia; Phenotype; Medicine; Biology; Disease; Neuroscience; Pathology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.001174662,0.0005019541,0.0006355721,0.001878954,0.0006865966,0.0005208155,0.0004918501,0.0004715322,0.001945795],"category_scores_gemma":[0.00292299,0.0001542604,0.0003013119,0.0008471572,0.0007148396,0.0003305814,0.0006816497,0.0005933868,0.0004728745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005155855,"about_ca_system_score_gemma":0.0003814253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01346196,"about_ca_topic_score_gemma":0.02028024,"domain_scores_codex":[0.9992422,0.0001076504,0.00009106239,0.0002377396,0.0002331907,0.00008823242],"domain_scores_gemma":[0.9972636,0.0005764256,0.0005407648,0.0003869167,0.0008101182,0.0004222],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003909156,0.00008291826,0.8210762,0.0002690959,0.0002164136,0.0168338,0.001981202,0.0002433615,0.1221023,0.0001721963,0.001018931,0.03561279],"study_design_scores_gemma":[0.00001506568,0.0001882387,0.9292918,0.00005989627,0.0000962288,0.05487567,0.000505884,0.0005742284,0.009885477,0.000143801,0.004331101,0.00003265775],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99571,0.001143396,0.001393029,0.0001200318,0.00001956386,0.0000215387,0.0003262525,0.00004480028,0.001221331],"genre_scores_gemma":[0.997438,0.0005084762,0.001148414,0.00008446895,0.00003287385,0.000006463442,0.000503323,0.00002478334,0.0002532485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01346196,"threshold_uncertainty_score":0.02676719,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02337294206387159,"score_gpt":0.247585025394694,"score_spread":0.2242120833308225,"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."}}