{"id":"W4323066978","doi":"10.1007/s00415-023-11643-z","title":"Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment","year":2023,"lang":"en","type":"article","venue":"Journal of Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"NIHR Cambridge Biomedical Research Centre; Addenbrooke's Charitable Trust, Cambridge University Hospitals; European Research Council; Medical Research Council; Canada Research Chairs; Department of Health and Social Care; Canadian Institutes of Health Research; Evelyn Trust; Lily Foundation; National Institute for Health and Care Research; Muscular Dystrophy Canada; Canada Foundation for Innovation; Newton Fund; Wellcome Trust","keywords":"Neuromuscular transmission; Neuromuscular junction; Salbutamol; Congenital myasthenic syndrome; Medicine; Repetitive nerve stimulation; Electromyography; Pyridostigmine; Multifocal motor neuropathy; Reinnervation; Neuroscience; Internal medicine; Myasthenia gravis; Acetylcholine receptor; Physical medicine and rehabilitation; Biology; Surgery; Mismatch negativity; Receptor","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":[0.000276214,0.0003543717,0.0005428624,0.0003546799,0.0001665359,0.0002266219,0.0001942796,0.000351324,0.0008525926],"category_scores_gemma":[0.0007267518,0.0000849988,0.0003155689,0.0002691115,0.0002952897,0.0001867943,0.000237755,0.0001758374,0.00009482887],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002964886,"about_ca_system_score_gemma":0.0002095278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140329,"about_ca_topic_score_gemma":0.00212697,"domain_scores_codex":[0.999814,0.00003064898,0.00003031312,0.00005140581,0.00004874292,0.00002499098],"domain_scores_gemma":[0.9996679,0.0001164368,0.0001333921,0.00001331446,0.00002750993,0.00004154949],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003290089,0.0003632989,0.7099091,0.0003518558,0.0004847566,0.04728483,0.0004243289,0.000654209,0.1709619,0.00014299,0.0001376776,0.06599495],"study_design_scores_gemma":[0.00007882525,0.001344448,0.9602265,0.00005089724,0.0001628536,0.03332077,0.0002034781,0.000385954,0.003866394,0.00008005749,0.0002667807,0.00001295187],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981872,0.001265268,0.0001043886,0.00002598459,0.000002427896,0.000009637129,0.00004035841,0.000005368199,0.000359391],"genre_scores_gemma":[0.9994078,0.0003206016,0.0001320327,0.0000176483,0.000004810785,0.000003729095,0.00005279502,0.000001879683,0.00005887216],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00140329,"threshold_uncertainty_score":0.002852201,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0367006571480467,"score_gpt":0.2808239826447179,"score_spread":0.2441233254966712,"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."}}