{"id":"W2335001489","doi":"10.1212/nxg.0000000000000063","title":"De novo <i>FUS</i> P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia","year":2016,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; ALS Society of Canada; McGill University; ALS Association; Michael J. Fox Foundation for Parkinson's Research","keywords":"Amyotrophic lateral sclerosis; Diplopia; Medicine; Spasticity; Spastic; Dysarthria; Dyskinesia; Physical medicine and rehabilitation; Pathology; Audiology; Disease; Cerebral palsy; Surgery","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002343496,0.001102811,0.0005029471,0.0009364728,0.001022904,0.0005924947,0.0004928877,0.002002651,0.001709344],"category_scores_gemma":[0.001060029,0.000372697,0.0004031031,0.0004869887,0.0008402046,0.0004319551,0.0006060642,0.0007180701,0.000809801],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005873431,"about_ca_system_score_gemma":0.0003519642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002776786,"about_ca_topic_score_gemma":0.003491629,"domain_scores_codex":[0.9996691,0.0000391632,0.00005975242,0.00007938634,0.00006501497,0.00008763542],"domain_scores_gemma":[0.9994457,0.0001673507,0.000144829,0.0000270035,0.00004167823,0.0001732662],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005433817,0.00002874779,0.006697952,0.00002149117,0.000006522748,0.9840566,0.0001517482,0.00005296429,0.007344884,0.00009595673,0.0003037433,0.001185113],"study_design_scores_gemma":[0.00002804444,0.0001297985,0.02677896,0.0000180267,0.00002748748,0.9689651,0.0001223133,0.0003626181,0.002449835,0.0001403525,0.0009568266,0.00002068353],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909694,0.0007644559,0.001349967,0.0009097873,0.0001764785,0.00006822812,0.0002008594,0.0001279341,0.005432935],"genre_scores_gemma":[0.9983785,0.0001606948,0.0004333984,0.000252807,0.0001255265,0.000006711132,0.00004919998,0.00001163026,0.0005815622],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002776786,"threshold_uncertainty_score":0.005718291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01832216223155139,"score_gpt":0.2505072976111656,"score_spread":0.2321851353796142,"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."}}