{"id":"W2031868468","doi":"10.1002/mdc3.12087","title":"‘Pseudo‐Dominant’ Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family","year":2014,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Ataxia; Dysarthria; Ataxic Gait; Inheritance (genetic algorithm); Genetics; Autosomal recessive inheritance; Medicine; Physical medicine and rehabilitation; Biology; Audiology; Neuroscience; Gene","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":[0.000469126,0.00153573,0.0004767431,0.001216967,0.001318721,0.0004422475,0.0005742254,0.000790518,0.00189117],"category_scores_gemma":[0.003047784,0.0004376328,0.000453792,0.0006833545,0.0009595544,0.0002568548,0.0007903753,0.0003493918,0.0002750391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006818274,"about_ca_system_score_gemma":0.0005404699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02967062,"about_ca_topic_score_gemma":0.02010736,"domain_scores_codex":[0.9997031,0.00006651751,0.0000319481,0.00008881761,0.00005451253,0.00005517915],"domain_scores_gemma":[0.9995185,0.000151811,0.00009852786,0.00004609504,0.00007715198,0.00010787],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002442122,0.0004396848,0.3948154,0.0001549239,0.0001126268,0.5509914,0.0126678,0.0003114477,0.02258843,0.0009801744,0.0007537765,0.01594018],"study_design_scores_gemma":[0.00005026294,0.0004594187,0.3909147,0.0001006432,0.000165085,0.5987847,0.002591215,0.0008229619,0.001445496,0.0004698182,0.004144289,0.00005137879],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967169,0.0003685996,0.000547812,0.0001942992,0.00001204679,0.00003683532,0.00009637743,0.00001032445,0.00201677],"genre_scores_gemma":[0.9984408,0.0004890999,0.0004767204,0.0001084231,0.00001295353,0.00001260922,0.00008333353,0.000009776869,0.0003663436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02967062,"threshold_uncertainty_score":0.05899584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05565437420604197,"score_gpt":0.3837401854820789,"score_spread":0.3280858112760369,"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."}}