{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T15:29:52Z","timestamp":1793374192995,"version":"4.5.0"},"reference-count":137,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,11,7]],"date-time":"2018-11-07T00:00:00Z","timestamp":1541548800000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000056","name":"National Institute of Nursing Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000056","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["neurotherapeuticsjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurotherapeutics"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1007\/s13311-018-00677-1","type":"journal-article","created":{"date-parts":[[2018,11,7]],"date-time":"2018-11-07T10:04:24Z","timestamp":1541585064000},"page":"885-899","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":119,"title":["Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches"],"prefix":"10.1016","volume":"15","author":[{"given":"Tokunbor A.","family":"Lawal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua J.","family":"Todd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine G.","family":"Meilleur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1007\/s13311-018-00677-1_bib1","series-title":"Neuromuscular Disorders of Infancy, Childhood, and Adolescence","first-page":"499","article-title":"Chapter 28 - Congenital and Other Structural Myopathies A2 - Darras, Basil T","author":"Dowling","year":"2015"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0960-8966(99)00055-3","article-title":"Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden","volume":"10","author":"Darin","year":"2000","journal-title":"Neuromuscular disorders : NMD"},{"issue":"Pt 11","key":"10.1007\/s13311-018-00677-1_bib3","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain : a journal of neurology"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib4","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/ana.22510","article-title":"Prevalence of congenital myopathies in a representative pediatric united states population","volume":"70","author":"Amburgey","year":"2011","journal-title":"Annals of neurology"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib5","first-page":"e140","article-title":"Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark","volume":"3","author":"Witting","year":"2017","journal-title":"Neurology: Genetics"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib6","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1212\/WNL.0000000000001110","article-title":"Congenital myopathies: Natural history of a large pediatric cohort","volume":"84","author":"Colombo","year":"2015","journal-title":"Neurology"},{"key":"10.1007\/s13311-018-00677-1_bib7","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/B978-0-444-64076-5.00036-3","article-title":"The genetics of congenital myopathies","volume":"148","author":"Gonorazky","year":"2018","journal-title":"Handbook of clinical neurology"},{"issue":"Pt 6","key":"10.1007\/s13311-018-00677-1_bib8","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1093\/brain\/awl077","article-title":"Central core disease is due to RYR1 mutations in more than 90% of patients","volume":"129","author":"Wu","year":"2006","journal-title":"Brain : a journal of neurology"},{"key":"10.1007\/s13311-018-00677-1_bib9","doi-asserted-by":"crossref","first-page":"d2072","DOI":"10.2741\/A899","article-title":"Regulation of mammalian ryanodine receptors","volume":"7","author":"Meissner","year":"2002","journal-title":"Frontiers in bioscience: a journal and virtual library"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1093\/brain\/79.4.610","article-title":"A new congenital non-progressive myopathy","volume":"79","author":"Magee","year":"1956","journal-title":"Brain : a journal of neurology"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib11","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0993-51","article-title":"Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia","volume":"5","author":"Quane","year":"1993","journal-title":"Nature genetics"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib12","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/ana.10231","article-title":"A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene","volume":"51","author":"Ferreiro","year":"2002","journal-title":"Annals of neurology"},{"issue":"7","key":"10.1007\/s13311-018-00677-1_bib13","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1007\/s00415-015-7757-9","article-title":"Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort","volume":"262","author":"Fattori","year":"2015","journal-title":"Journal of neurology"},{"issue":"11","key":"10.1007\/s13311-018-00677-1_bib14","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1212\/WNL.55.11.1689","article-title":"A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy","volume":"55","author":"Scacheri","year":"2000","journal-title":"Neurology"},{"issue":"7","key":"10.1007\/s13311-018-00677-1_bib15","doi-asserted-by":"crossref","first-page":"E1544","DOI":"10.1002\/humu.21278","article-title":"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion","volume":"31","author":"Clarke","year":"2010","journal-title":"Human mutation"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib16","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.nmd.2011.03.006","article-title":"King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene","volume":"21","author":"Dowling","year":"2011","journal-title":"Neuromuscular disorders : NMD"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib17","doi-asserted-by":"crossref","first-page":"e412","DOI":"10.1212\/WNL.0000000000004894","article-title":"Atypical periodic paralysis and myalgia: A novel RYR1 phenotype","volume":"90","author":"Matthews","year":"2018","journal-title":"Neurology"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib18","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","article-title":"Approach to the diagnosis of congenital myopathies","volume":"24","author":"North","year":"2014","journal-title":"Neuromuscular disorders : NMD"},{"key":"10.1007\/s13311-018-00677-1_bib19","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1750-1172-2-25","article-title":"Central core disease","volume":"2","author":"Jungbluth","year":"2007","journal-title":"Orphanet journal of rare diseases"},{"issue":"8","key":"10.1007\/s13311-018-00677-1_bib20","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1093\/brain\/awm096","article-title":"Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies","volume":"130","author":"Zhou","year":"2007","journal-title":"Brain : a journal of neurology"},{"issue":"6258","key":"10.1007\/s13311-018-00677-1_bib21","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/343559a0","article-title":"Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia","volume":"343","author":"MacLennan","year":"1990","journal-title":"Nature"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib22","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/ana.22119","article-title":"RYR1 mutations are a common cause of congenital myopathies with central nuclei","volume":"68","author":"Wilmshurst","year":"2010","journal-title":"Annals of neurology"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib23","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1001\/jama.286.2.168","article-title":"Malignant hyperthermia and apparent heat stroke","volume":"286","author":"Tobin","year":"2001","journal-title":"Jama"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib24","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1097\/ALN.0b013e3182320068","article-title":"Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families","volume":"115","author":"Groom","year":"2011","journal-title":"Anesthesiology"},{"issue":"10","key":"10.1007\/s13311-018-00677-1_bib25","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/S0025-6196(12)61722-4","article-title":"In vitro contracture testing for determination of susceptibility to malignant hyperthermia: a methodologic update","volume":"66","author":"Iaizzo","year":"1991","journal-title":"Mayo Clinic proceedings"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib26","doi-asserted-by":"crossref","first-page":"443","DOI":"10.3233\/JND-160172","article-title":"Excitation-Contraction Coupling Alterations in Myopathies","volume":"3","author":"Marty","year":"2016","journal-title":"Journal of Neuromuscular Diseases"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib27","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D","article-title":"Ryanodine receptor mutations in malignant hyperthermia and central core disease","volume":"15","author":"McCarthy","year":"2000","journal-title":"Human mutation"},{"issue":"12","key":"10.1007\/s13311-018-00677-1_bib28","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1001\/jamaophthalmol.2013.4392","article-title":"Ryr1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia","volume":"131","author":"Shaaban","year":"2013","journal-title":"JAMA Ophthalmology"},{"issue":"11","key":"10.1007\/s13311-018-00677-1_bib29","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1007\/s12630-014-0227-5","article-title":"Clinical Significance of Ryanodine Receptor 1 Gene (RYR1) Variants: Proceedings of the 2013 MHAUS Scientific Conference","volume":"61","author":"Riazi","year":"2014","journal-title":"Canadian journal of anaesthesia = Journal canadien d'anesthesie"},{"issue":"9","key":"10.1007\/s13311-018-00677-1_bib30","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1001\/archneurol.2011.188","article-title":"Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations","volume":"68","author":"Klein","year":"2011","journal-title":"Archives of neurology"},{"key":"10.1007\/s13311-018-00677-1_bib31","doi-asserted-by":"crossref","first-page":"118","DOI":"10.3389\/fneur.2018.00118","article-title":"Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings","volume":"9","author":"Todd","year":"2018","journal-title":"Frontiers in neurology"},{"key":"10.1007\/s13311-018-00677-1_bib32","doi-asserted-by":"crossref","DOI":"10.1007\/s00415-018-9033-2","article-title":"Correlation of phenotype with genotype and protein structure in RYR1-related disorders","author":"Todd","year":"2018","journal-title":"Journal of neurology"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib33","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.coph.2008.01.005","article-title":"Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm","volume":"8","author":"Treves","year":"2008","journal-title":"Current opinion in pharmacology"},{"issue":"18","key":"10.1007\/s13311-018-00677-1_bib34","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1093\/hmg\/ddl221","article-title":"Characterization of recessive RYR1 mutations in core myopathies","volume":"15","author":"Zhou","year":"2006","journal-title":"Human molecular genetics"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib35","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.nmd.2011.12.003","article-title":"182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands","volume":"22","author":"Jungbluth","year":"2012","journal-title":"Neuromuscular disorders : NMD"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib36","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1007\/s13311-014-0300-3","article-title":"Triadopathies: An Emerging Class of Skeletal Muscle Diseases","volume":"11","author":"Dowling","year":"2014","journal-title":"Neurotherapeutics"},{"issue":"Suppl 3","key":"10.1007\/s13311-018-00677-1_bib37","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s10545-010-9085-7","article-title":"Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction","volume":"33","author":"Schreuder","year":"2010","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib38","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1085\/jgp.114.6.787","article-title":"Rapid activation of the cardiac ryanodine receptor by submillisecond calcium stimuli","volume":"114","author":"Zahradnikova","year":"1999","journal-title":"The Journal of general physiology"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib39","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s10974-017-9470-z","article-title":"Physiology and pathophysiology of excitation-contraction coupling: the functional role of ryanodine receptor","volume":"38","author":"Santulli","year":"2017","journal-title":"Journal of muscle research and cell motility"},{"issue":"11","key":"10.1007\/s13311-018-00677-1_bib40","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a003996","article-title":"Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release","volume":"2","author":"Lanner","year":"2010","journal-title":"Cold Spring Harbor Perspectives in Biology"},{"issue":"26","key":"10.1007\/s13311-018-00677-1_bib41","doi-asserted-by":"crossref","first-page":"19785","DOI":"10.1016\/S0021-9258(19)36582-2","article-title":"Characterization of the major brain form of the ryanodine receptor\/Ca2+ release channel","volume":"268","author":"McPherson","year":"1993","journal-title":"The Journal of biological chemistry"},{"issue":"2\u20133","key":"10.1007\/s13311-018-00677-1_bib42","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0014-5793(92)80941-9","article-title":"Primary structure and distribution of a novel ryanodine receptor\/calcium release channel from rabbit brain","volume":"312","author":"Hakamata","year":"1992","journal-title":"FEBS letters"},{"issue":"6224","key":"10.1007\/s13311-018-00677-1_bib43","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/339439a0","article-title":"Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor","volume":"339","author":"Takeshima","year":"1989","journal-title":"Nature"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib44","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.cell.2016.08.075","article-title":"Structural Basis for Gating and Activation of RyR1","volume":"167","author":"des Georges","year":"2016","journal-title":"Cell"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib45","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ceca.2016.04.003","article-title":"Ryanodine receptors under the magnifying lens: Insights and limitations of cryo-electron microscopy and X-ray crystallography studies","volume":"59","author":"Yuchi","year":"2016","journal-title":"Cell calcium"},{"issue":"38","key":"10.1007\/s13311-018-00677-1_bib46","doi-asserted-by":"crossref","first-page":"31624","DOI":"10.1074\/jbc.R112.349068","article-title":"Ryanodine receptors: structure and function","volume":"287","author":"Van Petegem","year":"2012","journal-title":"The Journal of biological chemistry"},{"key":"10.1007\/s13311-018-00677-1_bib47","article-title":"A chemical chaperone improves muscle function in mice with a RyR1 mutation","volume":"8","author":"Lee","year":"2017","journal-title":"Nature communications"},{"issue":"7","key":"10.1007\/s13311-018-00677-1_bib48","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/humu.22326","article-title":"RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling","volume":"34","author":"Zhou","year":"2013","journal-title":"Human mutation"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib49","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1085\/jgp.118.3.277","article-title":"Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor","volume":"118","author":"Avila","year":"2001","journal-title":"The Journal of general physiology"},{"issue":"Pt 4","key":"10.1007\/s13311-018-00677-1_bib50","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1093\/brain\/aws036","article-title":"Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy","volume":"135","author":"Dowling","year":"2012","journal-title":"Brain : a journal of neurology"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib51","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.cell.2008.02.042","article-title":"RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice","volume":"133","author":"Durham","year":"2008","journal-title":"Cell"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib52","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1001\/archneur.61.1.27","article-title":"Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?","volume":"61","author":"Mathews","year":"2004","journal-title":"Archives of neurology"},{"key":"10.1007\/s13311-018-00677-1_bib53","author":"TUoCGSL"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib55","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1111\/pan.13130","article-title":"Anesthesia-induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important?","volume":"27","author":"Gray","year":"2017","journal-title":"Paediatric anaesthesia"},{"issue":"7","key":"10.1007\/s13311-018-00677-1_bib56","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/j.nmd.2013.03.008","article-title":"Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis","volume":"23","author":"Dlamini","year":"2013","journal-title":"Neuromuscular Disorders"},{"issue":"10","key":"10.1007\/s13311-018-00677-1_bib57","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0960-8966(02)00135-9","article-title":"The spectrum of pathology in central core disease","volume":"12","author":"Sewry","year":"2002","journal-title":"Neuromuscular disorders : NMD"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib58","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/mus.880120203","article-title":"Central core disease: Ultrastructure of the sarcoplasmic reticulum and T-tubules","volume":"12","author":"Hayashi","year":"2004","journal-title":"Muscle & Nerve"},{"key":"10.1007\/s13311-018-00677-1_bib59","series-title":"Myology","article-title":"Congenital myopathies","author":"Fardeau","year":"1994"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib60","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.spen.2011.10.005","article-title":"Core myopathies","volume":"18","author":"Jungbluth","year":"2011","journal-title":"Seminars in pediatric neurology"},{"issue":"Pt 11","key":"10.1007\/s13311-018-00677-1_bib61","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1093\/brain\/awg244","article-title":"Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia","volume":"126","author":"Romero","year":"2003","journal-title":"Brain : a journal of neurology"},{"issue":"17","key":"10.1007\/s13311-018-00677-1_bib62","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1212\/WNL.0b013e3182900380","article-title":"Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum","volume":"80","author":"Bharucha-Goebel","year":"2013","journal-title":"Neurology"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib63","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.1136\/jmg.2003.014274","article-title":"RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene","volume":"41","author":"Shepherd","year":"2004","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib64","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/CND.0000000000000069","article-title":"Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations","volume":"16","author":"Naddaf","year":"2015","journal-title":"Journal of clinical neuromuscular disease"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib65","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00401-016-1656-8","article-title":"Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy","volume":"133","author":"Schartner","year":"2017","journal-title":"Acta neuropathologica"},{"issue":"12","key":"10.1007\/s13311-018-00677-1_bib66","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1212\/01.wnl.0000188870.37076.f2","article-title":"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene","volume":"65","author":"Jungbluth","year":"2005","journal-title":"Neurology"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib67","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/humu.20696","article-title":"Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores","volume":"29","author":"Monnier","year":"2008","journal-title":"Human mutation"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib68","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.21089","article-title":"C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy","volume":"61","author":"Carmignac","year":"2007","journal-title":"Annals of neurology"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib69","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s10048-012-0315-z","article-title":"Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores","volume":"13","author":"Boyden","year":"2012","journal-title":"Neurogenetics"},{"issue":"21","key":"10.1007\/s13311-018-00677-1_bib70","doi-asserted-by":"crossref","first-page":"3098","DOI":"10.1093\/hmg\/ddl250","article-title":"A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy","volume":"15","author":"Tosch","year":"2006","journal-title":"Human molecular genetics"},{"issue":"11","key":"10.1007\/s13311-018-00677-1_bib71","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1038\/ejhg.2013.31","article-title":"Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing","volume":"21","author":"Scoto","year":"2013","journal-title":"European journal of human genetics : EJHG"},{"issue":"14","key":"10.1007\/s13311-018-00677-1_bib72","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1212\/WNL.0b013e3181bacf45","article-title":"Core-rod myopathy caused by mutations in the nebulin gene","volume":"73","author":"Romero","year":"2009","journal-title":"Neurology"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib73","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1590\/S0004-282X1998000100001","article-title":"Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset","volume":"56","author":"Zanoteli","year":"1998","journal-title":"Arquivos de neuro-psiquiatria"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib74","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/ana.21235","article-title":"Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset","volume":"62","author":"Bitoun","year":"2007","journal-title":"Annals of neurology"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib75","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1365-2990.2010.01149.x","article-title":"Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization","volume":"37","author":"Bevilacqua","year":"2010","journal-title":"Neuropathology and Applied Neurobiology"},{"key":"10.1007\/s13311-018-00677-1_bib76","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3389\/fnagi.2014.00339","article-title":"Pathogenic Mechanisms in Centronuclear Myopathies","volume":"6","author":"Jungbluth","year":"2014","journal-title":"Frontiers in Aging Neuroscience"},{"issue":"9","key":"10.1007\/s13311-018-00677-1_bib77","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1093\/hmg\/6.9.1505","article-title":"Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy","volume":"6","author":"Laporte","year":"1997","journal-title":"Human molecular genetics"},{"issue":"9","key":"10.1007\/s13311-018-00677-1_bib78","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1212\/01.WNL.0000124388.67003.56","article-title":"Clinical and histologic findings in autosomal centronuclear myopathy","volume":"62","author":"Jeannet","year":"2004","journal-title":"Neurology"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib79","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1002\/mgg3.338","article-title":"RYR1 causing distal myopathy","volume":"5","author":"Laughlin","year":"2017","journal-title":"Molecular Genetics & Genomic Medicine"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib80","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.spen.2011.10.008","article-title":"Congenital fiber-type disproportion","volume":"18","author":"Clarke","year":"2011","journal-title":"Seminars in pediatric neurology"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib81","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1002\/ana.20260","article-title":"Actin mutations are one cause of congenital fibre type disproportion","volume":"56","author":"Laing","year":"2004","journal-title":"Annals of neurology"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib82","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1212\/01.wnl.0000269792.63927.86","article-title":"Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation","volume":"70","author":"Sato","year":"2008","journal-title":"Neurology"},{"issue":"12","key":"10.1007\/s13311-018-00677-1_bib83","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.nmd.2004.08.006","article-title":"Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations","volume":"14","author":"Jungbluth","year":"2004","journal-title":"Neuromuscular disorders : NMD"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib84","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/humu.21157","article-title":"Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion","volume":"31","author":"Lawlor","year":"2010","journal-title":"Human mutation"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib85","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13052-017-0419-z","article-title":"Congenital myopathies: clinical phenotypes and new diagnostic tools","volume":"43","author":"Cassandrini","year":"2017","journal-title":"Italian journal of pediatrics"},{"issue":"Suppl 2","key":"10.1007\/s13311-018-00677-1_bib86","doi-asserted-by":"crossref","first-page":"S68","DOI":"10.1016\/j.nmd.2012.08.003","article-title":"Whole body muscle MRI protocol: pattern recognition in early onset NM disorders","volume":"22","author":"Quijano-Roy","year":"2012","journal-title":"Neuromuscular disorders : NMD"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib87","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1083\/jcb.200502101","article-title":"MyoD induces myogenic differentiation through cooperation of its NH(2)- and COOH-terminal regions","volume":"171","author":"Ishibashi","year":"2005","journal-title":"The Journal of Cell Biology"},{"issue":"15","key":"10.1007\/s13311-018-00677-1_bib88","doi-asserted-by":"crossref","first-page":"15380","DOI":"10.1074\/jbc.M410421200","article-title":"Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations","volume":"280","author":"Brini","year":"2005","journal-title":"The Journal of biological chemistry"},{"key":"10.1007\/s13311-018-00677-1_bib89","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/380072a0","article-title":"Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor","volume":"380","author":"Nakai","year":"1996","journal-title":"Nature"},{"key":"10.1007\/s13311-018-00677-1_bib90","article-title":"Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca(2+) release channel","volume":"6","author":"Filipova","year":"2016","journal-title":"Scientific reports"},{"issue":"10","key":"10.1007\/s13311-018-00677-1_bib91","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1016\/j.febslet.2010.03.005","article-title":"Ryanodine receptor studies using genetically engineered mice","volume":"584","author":"Kushnir","year":"2010","journal-title":"FEBS letters"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib92","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1097\/00000542-200612000-00016","article-title":"Pharmacologic and Functional Characterization of Malignant Hyperthermia in the R163C RyR1 Knock-in Mouse","volume":"105","author":"Yang","year":"2006","journal-title":"Anesthesiology"},{"issue":"15","key":"10.1007\/s13311-018-00677-1_bib93","doi-asserted-by":"crossref","first-page":"2771","DOI":"10.1242\/dev.004531","article-title":"Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease","volume":"134","author":"Hirata","year":"2007","journal-title":"Development (Cambridge, England)"},{"key":"10.1007\/s13311-018-00677-1_bib94","doi-asserted-by":"crossref","DOI":"10.1124\/mol.117.111468","article-title":"Efficient high-throughput screening by ER Ca<sup>2+<\/sup> measurement to identify inhibitors of ryanodine receptor Ca2+\u2212release channels","author":"Murayama","year":"2018","journal-title":"Molecular Pharmacology"},{"issue":"18","key":"10.1007\/s13311-018-00677-1_bib95","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1091\/mbc.e14-06-1141","article-title":"SERCaMP: a carboxy-terminal protein modification that enables monitoring of ER calcium homeostasis","volume":"25","author":"Henderson","year":"2014","journal-title":"Molecular biology of the cell"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib96","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1089\/hgtb.2015.140","article-title":"Expressing Transgenes That Exceed the Packaging Capacity of Adeno-Associated Virus Capsids","volume":"27","author":"Chamberlain","year":"2016","journal-title":"Human Gene Therapy Methods"},{"issue":"18","key":"10.1007\/s13311-018-00677-1_bib97","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"New England Journal of Medicine"},{"issue":"7","key":"10.1007\/s13311-018-00677-1_bib98","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1089\/hum.2013.052","article-title":"Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy","volume":"24","author":"Rendu","year":"2013","journal-title":"Human Gene Therapy"},{"key":"10.1007\/s13311-018-00677-1_bib99","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1155\/2017\/6792694","article-title":"Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S\/WT Mice","volume":"2017","author":"Michelucci","year":"2017","journal-title":"Oxidative Medicine and Cellular Longevity"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib100","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/0092-8674(94)90214-3","article-title":"Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein","volume":"77","author":"Brillantes","year":"1994","journal-title":"Cell"},{"issue":"7\u20138","key":"10.1007\/s13311-018-00677-1_bib101","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1089\/ars.2005.7.870","article-title":"Effects of S-glutathionylation and S-nitrosylation on calmodulin binding to triads and FKBP12 binding to type 1 calcium release channels","volume":"7","author":"Aracena","year":"2005","journal-title":"Antioxidants & redox signaling"},{"key":"10.1007\/s13311-018-00677-1_bib102","doi-asserted-by":"crossref","DOI":"10.1074\/jbc.M607590200","article-title":"Redox sensitivity of the ryanodine receptor interaction with FK506-binding protein","author":"Zissimopoulos","year":"2007","journal-title":"Journal of Biological Chemistry"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib103","first-page":"114","article-title":"Clinical applications of N-acetylcysteine","volume":"3","author":"Kelly","year":"1998","journal-title":"Alternative medicine review : a journal of clinical therapeutic"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib104","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.coph.2007.04.005","article-title":"N-acetylcysteine - a safe antidote for cysteine\/glutathione deficiency","volume":"7","author":"Atkuri","year":"2007","journal-title":"Current opinion in pharmacology"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib105","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1073\/pnas.88.3.986","article-title":"Suppression of human immunodeficiency virus expression in chronically infected monocytic cells by glutathione, glutathione ester, and N-acetylcysteine","volume":"88","author":"Kalebic","year":"1991","journal-title":"Proceedings of the National Academy of Sciences"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib106","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1164\/ajrccm.156.6.9706065","article-title":"Antioxidative and clinical effects of high-dose N-acetylcysteine in fibrosing alveolitis. Adjunctive therapy to maintenance immunosuppression","volume":"156","author":"Behr","year":"1997","journal-title":"American journal of respiratory and critical care medicine"},{"issue":"12","key":"10.1007\/s13311-018-00677-1_bib107","doi-asserted-by":"crossref","first-page":"4628","DOI":"10.1073\/pnas.0511304103","article-title":"High-dose oral N-acetylcysteine, a glutathione prodrug, modulates inflammation in cystic fibrosis","volume":"103","author":"Tirouvanziam","year":"2006","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib108","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.urology.2009.02.034","article-title":"Effects of N-acetylcysteine on Semen Parameters and Oxidative\/Antioxidant Status","volume":"74","author":"Ciftci","year":"2009","journal-title":"Urology"},{"issue":"11","key":"10.1007\/s13311-018-00677-1_bib109","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/j.biopsych.2012.01.014","article-title":"A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism","volume":"71","author":"Hardan","year":"2012","journal-title":"Biological Psychiatry"},{"issue":"Pt 1","key":"10.1007\/s13311-018-00677-1_bib110","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1113\/jphysiol.1996.sp021678","article-title":"Salbutamol changes the molecular and mechanical properties of canine skeletal muscle","volume":"496","author":"Zhang","year":"1996","journal-title":"The Journal of physiology"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib111","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"},{"issue":"5","key":"10.1007\/s13311-018-00677-1_bib112","first-page":"1402","article-title":"Pilot trial of albuterol in facioscapulohumeral muscular dystrophy","volume":"50","author":"Kissel","year":"1998","journal-title":"FSH-DY Group. Neurology"},{"issue":"8","key":"10.1007\/s13311-018-00677-1_bib113","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"},{"issue":"10","key":"10.1007\/s13311-018-00677-1_bib114","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0186128","article-title":"ER stress and subsequent activated calpain play a pivotal role in skeletal muscle wasting after severe burn injury","volume":"12","author":"Ma","year":"2017","journal-title":"PloS one"},{"key":"10.1007\/s13311-018-00677-1_bib115","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1155\/2013\/390493","article-title":"Dantrolene-Induced Inhibition of Skeletal L-Type Current Requires RyR1 Expression","volume":"2013","author":"Bannister","year":"2013","journal-title":"BioMed Research International"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib116","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0014-2999(76)90120-5","article-title":"The effects fo dantrolene sodium on cardiac and skeletal muscle in rats","volume":"39","author":"Meyler","year":"1976","journal-title":"European Journal of Pharmacology"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib117","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1365-2044.2004.03658.x","article-title":"Dantrolene\u2013a review of its pharmacology, therapeutic use and new developments","volume":"59","author":"Krause","year":"2004","journal-title":"Anaesthesia"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib118","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1213\/00000539-199804000-00047","article-title":"Prophylactic use of dantrolene in a patient with central core disease","volume":"86","author":"Michalek-Sauberer","year":"1998","journal-title":"Anesthesia and analgesia"},{"issue":"18","key":"10.1007\/s13311-018-00677-1_bib119","doi-asserted-by":"crossref","first-page":"4576","DOI":"10.1073\/pnas.1704103114","article-title":"Mind the magnesium, in dantrolene suppression of malignant hyperthermia","volume":"114","author":"Cannon","year":"2017","journal-title":"Proceedings of the National Academy of Sciences"},{"issue":"18","key":"10.1007\/s13311-018-00677-1_bib120","doi-asserted-by":"crossref","first-page":"4811","DOI":"10.1073\/pnas.1619835114","article-title":"Dantrolene requires Mg<sup>2+<\/sup> to arrest malignant hyperthermia","volume":"114","author":"Choi","year":"2017","journal-title":"Proceedings of the National Academy of Sciences"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib121","doi-asserted-by":"crossref","first-page":"157","DOI":"10.2174\/1872208311206030157","article-title":"Ryanodine receptor patents","volume":"6","author":"Kushnir","year":"2012","journal-title":"Recent patents on biotechnology"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib122","first-page":"2230","article-title":"Leaky Ca2+ release channel\/ryanodine receptor 2 causes seizures and sudden cardiac death in mice","volume":"118","author":"Lehnart","year":"2008","journal-title":"The Journal of Clinical Investigation"},{"issue":"1","key":"10.1007\/s13311-018-00677-1_bib123","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0054208","article-title":"Stabilization of the skeletal muscle ryanodine receptor ion channel-FKBP12 complex by the 1,4-benzothiazepine derivative S107","volume":"8","author":"Mei","year":"2013","journal-title":"PloS one"},{"key":"10.1007\/s13311-018-00677-1_bib124","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/nm.1916","article-title":"Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle","volume":"15","author":"Bellinger","year":"2009","journal-title":"Nature Medicine"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib125","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/nrd2857","article-title":"Fixing the leak","volume":"8","author":"Crunkhorn","year":"2009","journal-title":"Nature reviews Drug discovery"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib126","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.cmet.2011.05.014","article-title":"Ryanodine Receptor Oxidation Causes Intracellular Calcium Leak and Muscle Weakness in Aging","volume":"14","author":"Andersson Daniel","year":"2011","journal-title":"Cell Metabolism"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib127","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1096\/fj.201700182RRR","article-title":"Ryanodine channel complex stabilizer compound S48168\/ARM210 as a disease modifier in dystrophin-deficient mdx mice: proof-of-concept study and independent validation of efficacy","volume":"32","author":"Capogrosso","year":"2018","journal-title":"The FASEB Journal"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib128","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ddr.430330406","article-title":"New 1,4-benzothiazepine derivative, K201, demonstrates cardioprotective effects against sudden cardiac cell death and intracellular calcium blocking action","volume":"33","author":"Kaneko","year":"2004","journal-title":"Drug Development Research"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib129","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1124\/mol.115.102277","article-title":"K201 (JTV519) is a Ca<sup>2+<\/sup>\u2212Dependent Blocker of SERCA and a Partial Agonist of Ryanodine Receptors in Striated Muscle","volume":"90","author":"Darcy","year":"2016","journal-title":"Molecular Pharmacology"},{"issue":"16","key":"10.1007\/s13311-018-00677-1_bib130","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1042\/BCJ20170282","article-title":"Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease","volume":"474","author":"Chen","year":"2017","journal-title":"The Biochemical journal"},{"issue":"3","key":"10.1007\/s13311-018-00677-1_bib131","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/cvr\/26.3.193","article-title":"Functional implications of spontaneous sarcoplasmic reticulum Ca2+ release in the heart","volume":"26","author":"Lakatta","year":"1992","journal-title":"Cardiovascular Research"},{"key":"10.1007\/s13311-018-00677-1_bib132","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/nm.3440","article-title":"The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+\u2212triggered arrhythmias","volume":"20","author":"Chen","year":"2014","journal-title":"Nature Medicine"},{"issue":"2","key":"10.1007\/s13311-018-00677-1_bib133","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/nm.2598","article-title":"AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation","volume":"18","author":"Lanner","year":"2012","journal-title":"Nat Med"},{"issue":"9","key":"10.1007\/s13311-018-00677-1_bib134","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/gerona\/glu147","article-title":"Combined Strategies for Maintaining Skeletal Muscle Mass and Function in Aging: Myostatin Inactivation and AICAR-Associated Oxidative Metabolism Induction","volume":"70","author":"Pauly","year":"2015","journal-title":"The journals of gerontology Series A, Biological sciences and medical sciences"},{"issue":"4","key":"10.1007\/s13311-018-00677-1_bib135","doi-asserted-by":"crossref","first-page":"C817","DOI":"10.1152\/ajpcell.00139.2004","article-title":"Calcium, ATP, and ROS: a mitochondrial love-hate triangle","volume":"287","author":"Brookes","year":"2004","journal-title":"American journal of physiology Cell physiology"},{"issue":"8","key":"10.1007\/s13311-018-00677-1_bib136","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.nmd.2014.05.003","article-title":"RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine","volume":"24","author":"Illingworth","year":"2014","journal-title":"Neuromuscular Disorders"},{"issue":"6","key":"10.1007\/s13311-018-00677-1_bib137","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.nmd.2011.03.002","article-title":"Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia","volume":"21","author":"Liewluck","year":"2011","journal-title":"Neuromuscular Disorders"},{"issue":"7286","key":"10.1007\/s13311-018-00677-1_bib138","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1136\/bmj.322.7286.603","article-title":"Premature discontinuation of clinical trial for reasons not related to efficacy, safety, or feasibility","volume":"322","author":"Li\u00e8vre","year":"2001","journal-title":"BMJ : British Medical Journal"}],"container-title":["Neurotherapeutics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13311-018-00677-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-018-00677-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S187874792301019X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S187874792301019X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-018-00677-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T15:46:15Z","timestamp":1728661575000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S187874792301019X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":137,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S187874792301019X"],"URL":"https:\/\/doi.org\/10.1007\/s13311-018-00677-1","relation":{},"ISSN":["1878-7479"],"issn-type":[{"value":"1878-7479","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches","name":"articletitle","label":"Article Title"},{"value":"Neurotherapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1007\/s13311-018-00677-1","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2018 The authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}