{"id":"W2052229179","doi":"10.1002/mds.20264","title":"Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the <i>FRDA1</i> gene","year":2004,"lang":"en","type":"review","venue":"Movement Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Paraplegia; Spastic; Phenotype; Hereditary spastic paraplegia; Genetics; Physical medicine and rehabilitation; Gene; Biology; Medicine; Neuroscience; Spinal cord; Cerebral palsy","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":[0.0003356705,0.0008885823,0.001249293,0.001676826,0.0002081217,0.0005858344,0.0005509844,0.0007722136,0.00188692],"category_scores_gemma":[0.0004338684,0.0001686412,0.0001841466,0.00147102,0.000348177,0.0007771853,0.0003205121,0.0004979719,0.001756598],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000333398,"about_ca_system_score_gemma":0.0005095976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009951503,"about_ca_topic_score_gemma":0.002220079,"domain_scores_codex":[0.9998715,0.00002635037,0.00001972825,0.00003030879,0.00003848603,0.00001358457],"domain_scores_gemma":[0.9998222,0.00007540721,0.00003206436,0.000008221257,0.00004346913,0.00001857653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006898453,0.00003742395,0.0007649152,0.00507954,0.000061758,0.002844681,0.00008020346,0.0002198108,0.00194453,0.00103735,0.01805754,0.9698033],"study_design_scores_gemma":[0.00005213496,0.0002059036,0.009886456,0.002418455,0.0002378588,0.07194283,0.0002237365,0.0001766972,0.001397065,0.002589738,0.9108261,0.00004294714],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0007696037,0.9961607,0.0002102003,0.000211814,0.0001197671,0.000003261864,0.00001461215,0.00001376623,0.002496201],"genre_scores_gemma":[0.005800689,0.9916691,0.000437798,0.0002423842,0.0001937698,0.000009156489,0.0000532722,0.000002589039,0.001591325],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00188692,"threshold_uncertainty_score":0.00631243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03658904447901533,"score_gpt":0.278554063619146,"score_spread":0.2419650191401306,"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."}}