{"id":"W1987824870","doi":"10.1038/ng1927","title":"Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia","year":2006,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":347,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Hôpital de l'Enfant-Jésus; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"McGill University","keywords":"Spinocerebellar ataxia; Ataxia; Genetics; Biology; Cerebellar ataxia; Ataxia-telangiectasia; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004779069,0.0002181959,0.0002265568,0.0002088851,0.00007965677,0.00004313637,0.0004055651,0.0001757569,0.00002596069],"category_scores_gemma":[0.0005061848,0.0002141591,0.00007873437,0.0008124423,0.0001079317,0.00006981957,0.0001262702,0.0002999211,0.00002631576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005147929,"about_ca_system_score_gemma":0.0001539982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003270706,"about_ca_topic_score_gemma":0.0003588257,"domain_scores_codex":[0.9981435,0.0001100948,0.0003755014,0.0005508778,0.0004581216,0.0003618867],"domain_scores_gemma":[0.9990813,0.0001488607,0.0001415422,0.0004244701,0.0001063327,0.00009747096],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005269956,0.0002380665,0.01783524,0.00003382444,0.000003573631,0.00003142164,0.0003314539,0.01386646,0.9641801,0.0006519904,0.00164733,0.001127912],"study_design_scores_gemma":[0.0004960531,0.0001266527,0.08989104,0.00002539331,0.00001792516,0.000006112703,0.00004527895,0.000695922,0.9049758,0.002325055,0.001183595,0.0002111379],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996463,0.0004557394,0.0004019905,0.0004150176,0.0003154127,0.0005161373,0.0003774069,0.00002676977,0.001028516],"genre_scores_gemma":[0.9953734,0.00002768672,0.003205805,0.0006578037,0.0001097843,0.00003189435,0.0000298233,0.00003409844,0.0005296894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0720558,"threshold_uncertainty_score":0.8733153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01340821935683464,"score_gpt":0.2746128036224669,"score_spread":0.2612045842656323,"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."}}