{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005445517,0.0001394341,0.0001918213,0.0002434632,0.0001008992,0.00003610479,0.000422787,0.0000225304,0.0001305492],"category_scores_gemma":[0.001735756,0.0001205289,0.00007668087,0.0002211742,0.0002414114,0.00009266232,0.00004255239,0.0002523048,0.0000653941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004809948,"about_ca_system_score_gemma":0.0002938871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003684897,"about_ca_topic_score_gemma":0.00164991,"domain_scores_codex":[0.9976843,0.0007049193,0.0006795306,0.0001895742,0.0004689159,0.0002727444],"domain_scores_gemma":[0.9984901,0.0001043535,0.0004498584,0.0002095894,0.0002296871,0.0005164432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001670149,0.001232679,0.02574858,0.0001145184,0.00007201449,0.04210024,0.007676935,0.03369849,0.832392,0.001020076,0.0459516,0.009825794],"study_design_scores_gemma":[0.01053183,0.05127535,0.5334303,0.0004921234,0.0006797819,0.008998827,0.00507885,0.003659304,0.3007967,0.009297629,0.07279193,0.002967404],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954307,0.0001067807,0.0003492854,0.000199955,0.0002826106,0.0001386931,0.00003300456,0.00001193992,0.003447015],"genre_scores_gemma":[0.9990425,0.00001723477,0.0004307844,0.000231527,0.0001520546,4.958098e-7,0.000003577177,0.00002810252,0.00009369925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5315954,"threshold_uncertainty_score":0.4915028,"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."}}