{"id":"W1982701732","doi":"10.1212/wnl.0000000000001012","title":"Global investigation and meta-analysis of the <i>C9orf72</i> (G <sub>4</sub> C <sub>2</sub> ) <sub>n</sub> repeat in Parkinson disease","year":2014,"lang":"en","type":"article","venue":"Neurology","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; Department of Medicine, University of Toronto; Medical Research Council; Health Science Center, University of Tennessee; National Institutes of Health; Fondation Médicale Reine Elisabeth; Uniwersytet Śląski w Katowicach; Vlaamse regering; Śląski Uniwersytet Medyczny w Katowicach; Universiteit Antwerpen; Bundesministerium für Bildung und Forschung; Université Pierre et Marie Curie; University of Toronto; Parkinsonfonden; Fondation pour la Recherche sur Alzheimer; Ministero della Salute; Università degli Studi di Milano-Bicocca; Fondation pour la Recherche Médicale; Deutsches Zentrum für Neurodegenerative Erkrankungen; Belgian Federal Science Policy Office; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; University of Ulsan; Instituut Born-Bunge; MetLife Foundation; Griffith University; Agence Nationale de la Recherche; Fonds Wetenschappelijk Onderzoek; Rijksuniversiteit Groningen; Singapore General Hospital; Skånes universitetssjukhus; Universitair Medisch Centrum Groningen; Eli Lilly and Company; University of Thessaly; Institut National de la Santé et de la Recherche Médicale; Centre National de la Recherche Scientifique; Norges Teknisk-Naturvitenskapelige Universitet; National Medical Research Council; Lunds Universitet; Parkinson Vereniging; Michael J. Fox Foundation for Parkinson's Research","keywords":"C9orf72; Amyotrophic lateral sclerosis; Frontotemporal dementia; Parkinsonism; Dementia; Trinucleotide repeat expansion; Medicine; Cohort; Disease; Parkinson's disease; Population; Frontotemporal lobar degeneration; Family history; Pediatrics; Internal medicine; Genetics; Biology; Allele","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":[0.01549769,0.002274352,0.008395581,0.002884187,0.0008506913,0.003142128,0.001658543,0.00255776,0.002746363],"category_scores_gemma":[0.02760671,0.001162563,0.0357596,0.005558806,0.0006491863,0.001164238,0.001521764,0.002122986,0.0002717952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009380307,"about_ca_system_score_gemma":0.001418157,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006216813,"about_ca_topic_score_gemma":0.007311688,"domain_scores_codex":[0.9861745,0.008338032,0.001552207,0.002588211,0.0008202541,0.0005268617],"domain_scores_gemma":[0.9795019,0.01470143,0.002197512,0.002090218,0.001054102,0.0004548957],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.006710966,0.00003450048,0.1096242,0.0131124,0.8563499,0.0002822274,0.00006474803,0.002078617,0.00057679,0.0002628174,0.001654538,0.009248233],"study_design_scores_gemma":[0.0008256146,0.0003329474,0.0632895,0.001293728,0.9300829,0.0002408961,0.00005136669,0.001345699,0.0002482743,0.000652797,0.001607387,0.00002888018],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.1782446,0.8062088,0.005105608,0.0019572,0.001220987,0.0001702554,0.004930803,0.0002547427,0.00190698],"genre_scores_gemma":[0.9288522,0.06423792,0.002394069,0.001027895,0.0005634146,0.0002504299,0.002077863,0.0001104812,0.0004857512],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01549769,"threshold_uncertainty_score":0.08196056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02049818912134683,"score_gpt":0.2432163749880584,"score_spread":0.2227181858667116,"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."}}