{"id":"W4388606125","doi":"10.1093/brain/awad380","title":"Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"International Collaboration On Repair Discoveries; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Engineering and Physical Sciences Research Council; Directorate for Biological Sciences; Centers for Disease Control and Prevention; Medical Research Council; Ataxia UK; Regione Toscana; Eberhard Karls Universität Tübingen; Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg; Biotechnology and Biological Sciences Research Council; Wellcome Trust; Cancer Research UK; University College London; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Spastic Paraplegia Foundation; Lily Foundation; Deutsche Forschungsgemeinschaft; Muscular Dystrophy UK; Health Systems Research Institute; National Institutes of Health; Rosetrees Trust; European Commission; Newlife the Charity for Disabled Children; Technische Universität München; Francis Crick Institute; Brain Research UK; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Oklahoma Medical Research Foundation; Muscular Dystrophy Association; Michael J. Fox Foundation for Parkinson's Research","keywords":"Dystonia; Microcephaly; Movement disorders; Ataxia; Biology; Hypotonia; Neuroscience; Genetics; Medicine; Internal medicine; Disease","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":[0.000200201,0.001696692,0.0004166921,0.0009793694,0.0006118089,0.0002880459,0.0003211697,0.0005476009,0.004377645],"category_scores_gemma":[0.000424483,0.000231033,0.0004320666,0.0005793929,0.0005778532,0.0001697987,0.0008357876,0.0005534998,0.0008382414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002362338,"about_ca_system_score_gemma":0.0002538563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002234993,"about_ca_topic_score_gemma":0.002426847,"domain_scores_codex":[0.9996513,0.00003615162,0.0000551177,0.0001370271,0.00008106144,0.00003924982],"domain_scores_gemma":[0.9998123,0.00002798788,0.00006860876,0.00001173883,0.00001795471,0.00006134906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.001232011,0.0001710004,0.04986343,0.000159328,0.0002794702,0.09011843,0.0005465161,0.000474558,0.8405805,0.0009449651,0.001822401,0.01380744],"study_design_scores_gemma":[0.0001772193,0.0007940125,0.4414862,0.0001257442,0.0004683508,0.4350136,0.0005767113,0.00272982,0.1046114,0.0008404907,0.01309684,0.00007970422],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920931,0.0004218493,0.003454532,0.0001514181,0.00004406288,0.00006149468,0.001406298,0.0001779106,0.00218917],"genre_scores_gemma":[0.9945286,0.0003304725,0.002265317,0.0001404906,0.00002946399,0.00002856652,0.001149859,0.00006018364,0.001467013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004377645,"threshold_uncertainty_score":0.01464462,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01033803449496503,"score_gpt":0.2412930991884894,"score_spread":0.2309550646935244,"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."}}