{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003745309,0.0002456674,0.0005608011,0.0004809826,0.00004877773,0.00001530549,0.0002321548,0.0001214621,0.00001283846],"category_scores_gemma":[0.001012617,0.0001853286,0.0001678802,0.0006142791,0.0002077657,0.0001239061,0.0001125839,0.0003668948,0.00001083661],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002021513,"about_ca_system_score_gemma":0.00003106229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003274907,"about_ca_topic_score_gemma":0.00003102819,"domain_scores_codex":[0.9963592,0.001847502,0.000692905,0.0004122282,0.0003217775,0.0003663721],"domain_scores_gemma":[0.9985182,0.0007410857,0.0003386168,0.0002284508,0.00003537619,0.0001383015],"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":[0.001705415,0.0002880536,0.1469981,0.00006209213,0.00001661186,0.004045712,0.00009458761,0.003586397,0.8382972,0.000004954587,0.00006522712,0.004835591],"study_design_scores_gemma":[0.003222949,0.03461819,0.9218098,0.000009676455,0.00005410297,0.0006162493,0.00000576974,0.004226218,0.03415464,0.0001447477,0.0009863521,0.0001513173],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976315,0.00007731397,0.00001068391,0.001014572,0.000820294,0.0003933331,0.00000619698,0.00003666508,0.000009364394],"genre_scores_gemma":[0.9978281,0.0007899684,0.00001393762,0.001269301,0.00005113104,0.0000151716,7.188926e-7,0.0000274699,0.00000425098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8041426,"threshold_uncertainty_score":0.7557482,"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."}}