{"id":"W2888623455","doi":"10.1007/s10072-018-3526-8","title":"Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant","year":2018,"lang":"en","type":"article","venue":"Neurological Sciences","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"St. George's, University of London; Bundesministerium für Bildung und Forschung; Rare Disease Foundation","keywords":"Presentation (obstetrics); Natural history; Neurology; Neurosurgery; Medicine; Neuroradiology; Pediatrics; Surgery; Psychiatry; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003940089,0.00009622145,0.0002419713,0.00007697008,0.00009680328,0.00002082525,0.0001585686,0.00006136981,0.0001338399],"category_scores_gemma":[0.0003527235,0.00005562717,0.00004878759,0.0001998114,0.002604121,0.0001008934,0.0000776384,0.0001765624,0.000003853135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000762312,"about_ca_system_score_gemma":0.0001159719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001541035,"about_ca_topic_score_gemma":0.0003479803,"domain_scores_codex":[0.9984279,0.000192279,0.0002197191,0.0004554328,0.0004851281,0.0002195189],"domain_scores_gemma":[0.9991778,0.0003760346,0.00007611528,0.0001689889,0.00007215274,0.0001289178],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004329526,0.0001159946,0.9895164,0.000006612394,0.00002147133,0.00003521801,0.00009987171,0.000004881629,0.0009364175,0.00007642924,0.00007893889,0.008674847],"study_design_scores_gemma":[0.0005676454,0.004540114,0.9843308,0.000008810008,0.00006912959,0.00003745509,0.00007847067,0.009298666,0.00005089671,0.0005002784,0.000450397,0.00006734188],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978201,0.0003388566,0.0004747567,0.0004247535,0.0001657757,0.0001949218,0.00000183891,0.00002066211,0.0005582699],"genre_scores_gemma":[0.9973512,0.0001205464,0.00179745,0.0005946861,0.00008570309,0.000005530015,0.00000413821,0.000004300116,0.00003643828],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009293784,"threshold_uncertainty_score":0.9594992,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07048569524757477,"score_gpt":0.3671730306870749,"score_spread":0.2966873354395001,"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."}}