{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:58:05Z","timestamp":1792663085667,"version":"4.5.0"},"reference-count":81,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T00:00:00Z","timestamp":1554163200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000627","name":"Guarantors of Brain","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000627","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["201064\/Z\/16\/Z"],"award-info":[{"award-number":["201064\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["109915\/Z\/15\/Z"],"award-info":[{"award-number":["109915\/Z\/15\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/N025431\/1"],"award-info":[{"award-number":["MR\/N025431\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institute of Health Research","doi-asserted-by":"crossref","award":["162265"],"award-info":[{"award-number":["162265"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100010897","name":"Newton Fund","doi-asserted-by":"publisher","award":["MR\/N027302\/1"],"award-info":[{"award-number":["MR\/N027302\/1"]}],"id":[{"id":"10.13039\/100010897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["309548"],"award-info":[{"award-number":["309548"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The \u03b2-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the mechanisms underlying this clinical benefit are unknown and improved understanding of the effect of adrenergic signalling on the neuromuscular junction is essential to facilitate the development of more targeted therapies. Here, we investigated the effect of salbutamol treatment on the neuromuscular junction in the ColQ deficient mouse, a model of end-plate acetylcholinesterase deficiency. ColQ\u2212\/\u2212 mice received 7\u00a0weeks of daily salbutamol injection, and the effect on muscle strength and neuromuscular junction morphology was analysed. We show that salbutamol leads to a gradual improvement in muscle strength in ColQ\u2212\/\u2212 mice. In addition, the neuromuscular junctions of salbutamol treated mice showed significant improvements in several postsynaptic morphological defects, including increased synaptic area, acetylcholine receptor area and density, and extent of postjunctional folds. These changes occurred without alterations in skeletal muscle fibre size or type. These findings suggest that \u03b2-adrenergic agonists lead to functional benefit in the ColQ\u2212\/\u2212 mouse and to long-term structural changes at the neuromuscular junction. These effects are primarily at the postsynaptic membrane and may lead to enhanced neuromuscular transmission.<\/jats:p>","DOI":"10.1093\/hmg\/ddz059","type":"journal-article","created":{"date-parts":[[2019,3,22]],"date-time":"2019-03-22T16:16:26Z","timestamp":1553271386000},"page":"2339-2351","source":"Crossref","is-referenced-by-count":43,"title":["Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome"],"prefix":"10.1093","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8025-7989","authenticated-orcid":false,"given":"Grace M","family":"McMacken","sequence":"first","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Spendiff","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK"},{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger G","family":"Whittaker","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1952-7817","authenticated-orcid":false,"given":"Emily","family":"O\u2019Connor","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel M","family":"Howarth","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Boczonadi","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarke R","family":"Slater","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,4,1]]},"reference":[{"key":"2019091011595035700_ref1","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1055\/s-0037-1602832","article-title":"The increasing genetic and Phenotypical diversity of congenital Myasthenic syndromes","volume":"48","author":"McMacken","year":"2017","journal-title":"Neuropediatrics"},{"key":"2019091011595035700_ref2","doi-asserted-by":"crossref","first-page":"269","DOI":"10.3233\/JND-170257","article-title":"Congenital Myasthenic syndromes or inherited disorders of neuromuscular transmission: recent discoveries and open questions","volume":"4","author":"Nicole","year":"2017","journal-title":"J. Neuromuscul. Dis."},{"key":"2019091011595035700_ref3","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/S1474-4422(14)70201-7","article-title":"Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment","volume":"14","author":"Engel","year":"2015","journal-title":"Lancet Neurol."},{"key":"2019091011595035700_ref4","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.nurt.2008.07.003","article-title":"Therapeutic strategies in congenital myasthenic syndromes","volume":"5","author":"Schara","year":"2008","journal-title":"Neurotherapeutics"},{"key":"2019091011595035700_ref5","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1212\/WNL.0b013e3181dd43bf","article-title":"Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7","volume":"74","author":"Lashley","year":"2010","journal-title":"Neurology"},{"key":"2019091011595035700_ref6","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/brain\/awu160","article-title":"Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy","volume":"137","author":"Nicole","year":"2014","journal-title":"Brain"},{"key":"2019091011595035700_ref7","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.nmd.2013.08.002","article-title":"Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK","volume":"24","author":"Gallenm\u00fcller","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"2019091011595035700_ref8","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2015.08.261","article-title":"Salbutamol benefits children with congenital myasthenic syndrome due to ALG2 mutation","volume":"357","author":"Salih","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"2019091011595035700_ref9","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1093\/brain\/awm325","article-title":"Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes","volume":"131","author":"Mihaylova","year":"2008","journal-title":"Brain J. Neurol."},{"key":"2019091011595035700_ref10","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1212\/WNL.0000000000001952","article-title":"Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes","volume":"85","author":"Cruz","year":"2015","journal-title":"Neurology"},{"key":"2019091011595035700_ref11","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jns.2013.05.017","article-title":"Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation","volume":"331","author":"Lorenzoni","year":"2013","journal-title":"J. Neurol. Sci."},{"key":"2019091011595035700_ref12","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1113\/jphysiol.1895.sp000564","article-title":"The physiological effects of extracts of the suprarenal capsules","volume":"18","author":"Oliver","year":"1895","journal-title":"J. Physiol."},{"key":"2019091011595035700_ref13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1113\/jphysiol.1987.sp016825","article-title":"Modulation of calcium channels of twitch skeletal muscle fibres of the frog by adrenaline and cyclic adenosine monophosphate","volume":"393","author":"Arreola","year":"1987","journal-title":"J. Physiol."},{"key":"2019091011595035700_ref14","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1002\/mus.880161208","article-title":"Beta-adrenergic potentiation of E-C coupling increases force in rat skeletal muscle","volume":"16","author":"Cairns","year":"1993","journal-title":"Muscle Nerve"},{"key":"2019091011595035700_ref15","first-page":"526","article-title":"Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain)","volume":"198","author":"Gross","year":"1976","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"2019091011595035700_ref16","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1097\/00075197-200205000-00007","article-title":"Adrenergic control of protein metabolism in skeletal muscle","volume":"5","author":"Navegantes","year":"2002","journal-title":"Curr. Opin. Clin. Nutr. Metab. Care"},{"key":"2019091011595035700_ref17","doi-asserted-by":"crossref","first-page":"E663","DOI":"10.1152\/ajpendo.2000.279.3.E663","article-title":"Role of adrenoceptors and cAMP on the catecholamine-induced inhibition of proteolysis in rat skeletal muscle","volume":"279","author":"Navegantes","year":"2000","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"2019091011595035700_ref18","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/BF01119873","article-title":"Modification of body composition by clenbuterol in normal and dystrophic (mdx) mice","volume":"5","author":"Rothwell","year":"1985","journal-title":"Biosci. Rep."},{"key":"2019091011595035700_ref19","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/0305-4179(93)90097-R","article-title":"Clenbuterol, a \u03b22-adrenergic agonist, reverses muscle wasting due to scald injury in the rat","volume":"19","author":"Martineau","year":"1993","journal-title":"Burns"},{"key":"2019091011595035700_ref20","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1055\/s-2004-821173","article-title":"Pilot trial of salbutamol in central core and multi-minicore diseases","volume":"35","author":"Messina","year":"2004","journal-title":"Neuropediatrics"},{"key":"2019091011595035700_ref21","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1212\/WNL.57.8.1434","article-title":"Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy","volume":"57","author":"Kissel","year":"2001","journal-title":"Neurology"},{"key":"2019091011595035700_ref22","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.nmd.2008.05.004","article-title":"Daily salbutamol in young patients with SMA type II","volume":"18","author":"Pane","year":"2008","journal-title":"Neuromuscul. Disord. NMD"},{"key":"2019091011595035700_ref23","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0003-9993(95)80043-3","article-title":"Increased muscle strength in paralyzed patients after spinal cord injury: effect of beta-2 adrenergic agonist","volume":"76","author":"Signorile","year":"1995","journal-title":"Arch. Phys. Med. Rehabil."},{"key":"2019091011595035700_ref24","doi-asserted-by":"publisher","DOI":"10.1042\/ETLS20180100","article-title":"Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome","author":"Thompson","year":"2019","journal-title":"Emerg. Top. Life Sci."},{"key":"2019091011595035700_ref25","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/mus.22176","article-title":"Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia","volume":"44","author":"Liewluck","year":"2011","journal-title":"Muscle Nerve"},{"key":"2019091011595035700_ref26","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.nmd.2012.11.004","article-title":"Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations","volume":"23","author":"Burke","year":"2013","journal-title":"Neuromuscul. Disord. NMD"},{"key":"2019091011595035700_ref27","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1212\/01.wnl.0000167132.35865.31","article-title":"Congenital endplate acetylcholinesterase deficiency responsive to ephedrine","volume":"65","author":"Bestue-Cardiel","year":"2005","journal-title":"Neurology"},{"key":"2019091011595035700_ref28","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/302059","article-title":"Mutation in the human Acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital Myasthenic syndrome with end-plate Acetylcholinesterase deficiency (type Ic)","volume":"63","author":"Donger","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"2019091011595035700_ref29","doi-asserted-by":"crossref","first-page":"9654","DOI":"10.1073\/pnas.95.16.9654","article-title":"Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme","volume":"95","author":"Ohno","year":"1998","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2019091011595035700_ref30","doi-asserted-by":"crossref","first-page":"4394","DOI":"10.1038\/sj.emboj.7600425","article-title":"The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix","volume":"23","author":"Dvir","year":"2004","journal-title":"EMBO J."},{"key":"2019091011595035700_ref31","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1093\/brain\/awm325","article-title":"Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes","volume":"131","author":"Mihaylova","year":"2008","journal-title":"Brain"},{"key":"2019091011595035700_ref32","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.410010403","article-title":"A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release","volume":"1","author":"Engel","year":"1977","journal-title":"Ann. Neurol."},{"key":"2019091011595035700_ref33","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/jnnp.43.7.577","article-title":"Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes","volume":"43","author":"Engel","year":"1980","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2019091011595035700_ref34","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1083\/jcb.144.6.1349","article-title":"Genetic analysis of collagen Q: roles in Acetylcholinesterase and Butyrylcholinesterase assembly and in synaptic structure and function","volume":"144","author":"Feng","year":"1999","journal-title":"J. Cell Biol."},{"key":"2019091011595035700_ref35","first-page":"788","article-title":"Cholinesterases and the resistance of the mouse diaphragm to the effect of Tubocurarine","volume":"103","author":"Nguyen-Huu","year":"2005","journal-title":"Anesthesiol. J. Am. Soc. Anesthesiol."},{"key":"2019091011595035700_ref36","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1523\/JNEUROSCI.4374-09.2010","article-title":"ColQ controls postsynaptic differentiation at the neuromuscular junction","volume":"30","author":"Sigoillot","year":"2010","journal-title":"J. Neurosci. Off. J. Soc. Neurosci."},{"key":"2019091011595035700_ref37","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1083\/jcb.200307164","article-title":"MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction","volume":"165","author":"Cartaud","year":"2004","journal-title":"J. Cell Biol."},{"key":"2019091011595035700_ref38","first-page":"2382","article-title":"Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency","volume":"30","author":"Sigoillot","year":"2016","journal-title":"FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol."},{"key":"2019091011595035700_ref39","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.160240","article-title":"NMJ-morph reveals principal components of synaptic morphology influencing structure\u2013function relationships at the neuromuscular junction","volume":"6","author":"Jones","year":"2016","journal-title":"Open Biol."},{"key":"2019091011595035700_ref40","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1113\/jphysiol.2012.241679","article-title":"Effects of in vivo injury on the neuromuscular junction in healthy and dystrophic muscles","volume":"591","author":"Pratt","year":"2013","journal-title":"J. Physiol."},{"key":"2019091011595035700_ref41","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0072-9752(07)01502-3","article-title":"Reliability of neuromuscular transmission and how it is maintained","volume":"91","author":"Slater","year":"2008","journal-title":"Handb. Clin. Neurol."},{"key":"2019091011595035700_ref42","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1083\/jcb.69.1.144","article-title":"Quantitation of junctional and extrajunctional acetylcholine receptors by electron microscope autoradiography after (125)I-\u03b1-bungarotoxin binding at mouse neuromuscular junctions","volume":"69","author":"Fertuck","year":"1976","journal-title":"J. Cell Biol."},{"key":"2019091011595035700_ref43","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1093\/brain\/115.2.451","article-title":"Structure and function of neuromuscular junctions in the vastus lateralis of man. A motor point biopsy study of two groups of patients","volume":"115","author":"Slater","year":"1992","journal-title":"Brain J. Neurol."},{"key":"2019091011595035700_ref44","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.biocel.2010.10.008","article-title":"Muscle specific kinase: organiser of synaptic membrane domains","volume":"43","author":"Ghazanfari","year":"2011","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"2019091011595035700_ref45","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1101\/SQB.1990.055.01.041","article-title":"The agrin hypothesis","volume":"55","author":"McMahan","year":"1990","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"2019091011595035700_ref46","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1083\/jcb.152.3.435","article-title":"The Dystroglycan complex is necessary for stabilization of acetylcholine receptor clusters at neuromuscular junctions and formation of the synaptic basement membrane","volume":"152","author":"Jacobson","year":"2001","journal-title":"J. Cell Biol."},{"key":"2019091011595035700_ref47","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1083\/jcb.145.4.911","article-title":"Acetylcholinesterase clustering at the neuromuscular junction involves Perlecan and Dystroglycan","volume":"145","author":"Peng","year":"1999","journal-title":"J. Cell Biol."},{"key":"2019091011595035700_ref48","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/0959-4388(95)80088-3","article-title":"Assembly of the postsynaptic apparatus","volume":"5","author":"Apel","year":"1995","journal-title":"Curr. Opin. Neurobiol."},{"key":"2019091011595035700_ref49","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1016\/0006-2952(91)90516-8","article-title":"Characterization of \u03b21- and \u03b22-adrenoceptors in rat skeletal muscles","volume":"42","author":"Kim","year":"1991","journal-title":"Biochem. Pharmacol."},{"key":"2019091011595035700_ref50","doi-asserted-by":"crossref","first-page":"E160","DOI":"10.1152\/ajpendo.1984.246.2.E160","article-title":"Skeletal muscle beta-adrenergic receptors: variations due to fiber type and training","volume":"246","author":"Williams","year":"1984","journal-title":"Am. J. Physiol.-Endocrinol. Metab."},{"key":"2019091011595035700_ref51","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0006-8993(93)90025-I","article-title":"Ephedrine: effects on neuromuscular transmission","volume":"623","author":"Sieb","year":"1993","journal-title":"Brain Res."},{"key":"2019091011595035700_ref52","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/S0006-8993(96)00894-3","article-title":"Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol","volume":"740","author":"Milone","year":"1996","journal-title":"Brain Res."},{"key":"2019091011595035700_ref53","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/BF00169543","article-title":"Evidence that catecholamines increase acetylcholine release from neuromuscular junction through stimulation of alpha-1 adrenoceptors","volume":"343","author":"Vizi","year":"1991","journal-title":"Naunyn. Schmiedebergs Arch. Pharmacol."},{"key":"2019091011595035700_ref54","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1111\/j.1476-5381.1988.tb11574.x","article-title":"\u03b2-Adrenoceptor stimulation enhances transmitter output from the rat phrenic nerve","volume":"94","author":"Wessler","year":"1988","journal-title":"Br. J. Pharmacol."},{"key":"2019091011595035700_ref55","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1152\/physrev.1945.25.3.377","article-title":"The relation of adrenaline to acetylcholine in the nervous system","volume":"25","author":"Burn","year":"1945","journal-title":"Physiol. Rev."},{"key":"2019091011595035700_ref56","first-page":"746","volume-title":"Proc. Natl. Acad. Sci","author":"Khan","year":"2016"},{"key":"2019091011595035700_ref57","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19071935","article-title":"Postnatal development and distribution of sympathetic innervation in mouse skeletal muscle","volume":"19","author":"Straka","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"2019091011595035700_ref58","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1093\/hmg\/ddy062","article-title":"The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes","volume":"27","author":"McMacken","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2019091011595035700_ref59","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/practneurol-2012-000404","article-title":"Congenital myasthenic syndromes: an update","volume":"13","author":"Finlayson","year":"2013","journal-title":"Pract. Neurol."},{"key":"2019091011595035700_ref60","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1093\/brain\/116.3.633","article-title":"Congenital endplate acetylcholinesterase deficiency","volume":"116","author":"Hutchinson","year":"1993","journal-title":"Brain J. Neurol."},{"key":"2019091011595035700_ref61","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.2741\/4532","article-title":"Trans-synaptic homeostasis at the myasthenic neuromuscular junction","volume":"22","author":"Plomp","year":"2017","journal-title":"Front. Biosci. Landmark Ed."},{"key":"2019091011595035700_ref62","doi-asserted-by":"crossref","first-page":"9340","DOI":"10.1523\/JNEUROSCI.23-28-09340.2003","article-title":"Activity-dependent plasticity of transmitter release from nerve terminals in rat fast and slow muscles","volume":"23","author":"Reid","year":"2003","journal-title":"J. Neurosci."},{"key":"2019091011595035700_ref63","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1002\/mus.10092","article-title":"Skeletal muscle hypertrophy and anti-atrophy effects of clenbuterol are mediated by the beta2-adrenergic receptor","volume":"25","author":"Hinkle","year":"2002","journal-title":"Muscle Nerve"},{"key":"2019091011595035700_ref64","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1016\/j.biocel.2013.06.025","article-title":"\u03b22-adrenergic agonists and the treatment of skeletal muscle wasting disorders","volume":"45","author":"Joassard","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"2019091011595035700_ref65","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1152\/physrev.00028.2007","article-title":"Role of beta-adrenoceptor signaling in skeletal muscle: implications for muscle wasting and disease","volume":"88","author":"Lynch","year":"2008","journal-title":"Physiol. Rev."},{"key":"2019091011595035700_ref66","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1212\/01.WNL.0000287070.00149.a9","article-title":"Albuterol increases lean body mass in ambulatory boys with Duchenne or Becker muscular dystrophy","volume":"70","author":"Skura","year":"2008","journal-title":"Neurology"},{"key":"2019091011595035700_ref67","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ymgmr.2017.04.004","article-title":"Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease","volume":"11","author":"Chien","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"2019091011595035700_ref68","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1093\/brain\/awl200","article-title":"Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with \u2018limb-girdle myasthenia","volume":"129","author":"Slater","year":"2006","journal-title":"Brain J. Neurol."},{"key":"2019091011595035700_ref69","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1196\/annals.1405.003","article-title":"Structural factors influencing the efficacy of neuromuscular transmission","volume":"1132","author":"Slater","year":"2008","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2019091011595035700_ref70","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0012-1606(82)90063-X","article-title":"Postnatal maturation of nerve-muscle junctions in hindlimb muscles of the mouse","volume":"94","author":"Slater","year":"1982","journal-title":"Dev. Biol."},{"key":"2019091011595035700_ref71","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1098\/rspb.1994.0180","article-title":"Amplification of neuromuscular transmission by postjunctional folds","volume":"258","author":"Martin","year":"1994","journal-title":"Proc. Biol. Sci."},{"key":"2019091011595035700_ref72","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1113\/jphysiol.1979.sp013003","article-title":"The relationship between end-plate size and transmitter release in normal and dystrophic muscles of the mouse","volume":"296","author":"Harris","year":"1979","journal-title":"J. Physiol."},{"key":"2019091011595035700_ref73","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/S0301-0082(00)00055-1","article-title":"Safety factor at the neuromuscular junction","volume":"64","author":"Wood","year":"2001","journal-title":"Prog. Neurobiol."},{"key":"2019091011595035700_ref74","doi-asserted-by":"crossref","first-page":"3092","DOI":"10.1111\/j.1460-9568.2004.03783.x","article-title":"Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington\u2019s disease mutation","volume":"20","author":"Ribchester","year":"2004","journal-title":"Eur. J. Neurosci."},{"key":"2019091011595035700_ref75","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.nmd.2012.11.004","article-title":"Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations","volume":"23","author":"Burke","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"2019091011595035700_ref76","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/164_2016_64","article-title":"\u03b22-agonists","volume":"237","author":"Billington","year":"2017","journal-title":"Handb. Exp. Pharmacol."},{"key":"2019091011595035700_ref77","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1056\/NEJM198207223070401","article-title":"Decreased catecholamine sensitivity and beta-adrenergic-receptor density in failing human hearts","volume":"307","author":"Bristow","year":"1982","journal-title":"N. Engl. J. Med."},{"key":"2019091011595035700_ref78","doi-asserted-by":"crossref","DOI":"10.3390\/ijms18102183","article-title":"The structure of human neuromuscular junctions: some unanswered molecular questions","volume":"18","author":"Slater","year":"2017","journal-title":"Int. J. Mol. Sci."},{"key":"2019091011595035700_ref79","first-page":"1017","article-title":"To build a synapse: signaling pathways in neuromuscular junction assembly","volume":"137","author":"Wu","year":"2010","journal-title":"Dev. Camb. Engl."},{"key":"2019091011595035700_ref80","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1152\/physiolgenomics.90207.2008","article-title":"Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study","volume":"34","author":"Mandillo","year":"2008","journal-title":"Physiol. Genomics"},{"key":"2019091011595035700_ref81","doi-asserted-by":"publisher","DOI":"10.3791\/52220","article-title":"The neuromuscular junction: measuring synapse size, fragmentation and changes in synaptic protein density using confocal fluorescence microscopy","author":"Tse","year":"2014","journal-title":"JoVE"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddz059\/28499805\/ddz059.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/14\/2339\/28885709\/ddz059.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,20]],"date-time":"2019-09-20T21:39:30Z","timestamp":1569015570000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/14\/2339\/5424977"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,1]]},"references-count":81,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2019,4,1]]},"published-print":{"date-parts":[[2019,7,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddz059","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,7,15]]},"published":{"date-parts":[[2019,4,1]]}}}