{"id":"W2182706109","doi":"10.1038/ejhg.2015.240","title":"SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":59,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital Fleurimont; Centre Hospitalier Universitaire de Sherbrooke; Université Laval; Cégep de Jonquière; Université de Sherbrooke; McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; McGill University; Hôpital de l'Enfant-Jésus; University of Ottawa; Montreal Neurological Institute and Hospital","funders":"","keywords":"Ataxia; Hereditary spastic paraplegia; Cerebellar ataxia; Genetics; Medicine; Spastic; Sanger sequencing; Cohort; Mutation; Exome sequencing; Spasticity; Compound heterozygosity; Biology; Gene; Internal medicine; Phenotype; Physical therapy; Cerebral palsy; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0005736338,0.001931835,0.0008191348,0.004419259,0.002481234,0.001177826,0.001054484,0.001464667,0.01221367],"category_scores_gemma":[0.002044768,0.0003611598,0.001056311,0.003836194,0.001137467,0.0004157469,0.0008670697,0.0005510663,0.001289611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003315153,"about_ca_system_score_gemma":0.005515372,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5807877,"about_ca_topic_score_gemma":0.6276067,"domain_scores_codex":[0.9991418,0.00007479087,0.00005710146,0.0001920696,0.0003142897,0.0002199581],"domain_scores_gemma":[0.9993316,0.0001481068,0.0001224871,0.00004292442,0.0002632295,0.00009165667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001241786,0.0001342922,0.6718298,0.0007022035,0.001028136,0.08567036,0.003656491,0.001862628,0.03282096,0.006571962,0.03455404,0.1599274],"study_design_scores_gemma":[0.0001123819,0.0001305016,0.8483078,0.0003691501,0.0008714633,0.09485555,0.002624101,0.00137351,0.003442919,0.001870463,0.04592621,0.0001158268],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9472696,0.008466032,0.00235236,0.002428922,0.0002428316,0.00009512726,0.006632877,0.0003099281,0.03220247],"genre_scores_gemma":[0.9875976,0.002919096,0.001305929,0.0003560687,0.0001043748,0.00002570525,0.002045951,0.00008416329,0.005561045],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4192123,"threshold_uncertainty_score":0.8433623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.109920256781668,"score_gpt":0.2832299297824416,"score_spread":0.1733096730007735,"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."}}