{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:13:47Z","timestamp":1791872027723,"version":"4.3.4"},"reference-count":23,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T00:00:00Z","timestamp":1101859200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T00:00:00Z","timestamp":1101859200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2004,12]]},"DOI":"10.1016\/j.nmd.2004.08.006","type":"journal-article","created":{"date-parts":[[2004,10,21]],"date-time":"2004-10-21T14:49:05Z","timestamp":1098370145000},"page":"785-790","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":133,"title":["Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations"],"prefix":"10.1016","volume":"14","author":[{"given":"Heinz","family":"Jungbluth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Counsell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Allsop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arijit","family":"Chattopadhyay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline A.","family":"Sewry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Bydder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2004.08.006_bib1","first-page":"79","article-title":"Locomotor system assessment by muscle magnetic resonance imaging","volume":"7","author":"Fleckenstein","year":"1991","journal-title":"Magn Reson Q"},{"key":"10.1016\/j.nmd.2004.08.006_bib2","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1148\/radiology.179.2.2064655","article-title":"Inflammatory myopathies: MR imaging and spectroscopy","volume":"179","author":"Fraser","year":"1991","journal-title":"Radiology"},{"key":"10.1016\/j.nmd.2004.08.006_bib3","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1259\/0007-1285-63-756-946","article-title":"Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement","volume":"63","author":"Lamminen","year":"1990","journal-title":"Br J Radiol"},{"key":"10.1016\/j.nmd.2004.08.006_bib4","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1055\/s-2002-23593","article-title":"Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"33","author":"Mercuri","year":"2002","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nmd.2004.08.006_bib5","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/S0960-8966(02)00023-8","article-title":"Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)","volume":"12","author":"Mercuri","year":"2002","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.nmd.2004.08.006_bib6","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1053\/ejpn.2002.0618","article-title":"Muscle MRI findings in a three-generation family affected by Bethlem myopathy","volume":"6","author":"Mercuri","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2004.08.006_bib7","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 Mutat"},{"key":"10.1016\/j.nmd.2004.08.006_bib8","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1093\/hmg\/9.18.2599","article-title":"An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 encoding the skeletal muscle ryanodine receptor","volume":"9","author":"Monnier","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2004.08.006_bib9","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":"Annu Neurol"},{"key":"10.1016\/j.nmd.2004.08.006_bib10","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1212\/WNL.59.2.284","article-title":"Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores","volume":"59","author":"Jungbluth","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2004.08.006_bib11","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1053\/ejpn.2002.0617","article-title":"A short protocol for muscle MRI in children with muscular dystrophies","volume":"6","author":"Mercuri","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2004.08.006_bib12","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0960-8966(98)00064-9","article-title":"A severe clinical variant of central core disease with possible recessive inheritance","volume":"8","author":"Manzur","year":"1998","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.nmd.2004.08.006_bib13","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/hmg\/10.25.2879","article-title":"Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis","volume":"10","author":"Tilgen","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2004.08.006_bib14","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(02)00218-3","article-title":"Principal mutation hotspot for muscle cetral core pathology in the C-terminal transmembrane region of the RYR1 gene","volume":"13","author":"Davis","year":"2003","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.nmd.2004.08.006_bib15","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1148\/radiology.158.1.3940397","article-title":"MR imaging of fat","volume":"158","author":"Dooms","year":"1986","journal-title":"Radiology"},{"key":"10.1016\/j.nmd.2004.08.006_bib16","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1177\/088307388700200307","article-title":"Ultrasound imaging and directed needle biopsy in the diagnosis of selective involvement in muscle disease","volume":"2","author":"Heckmatt","year":"1987","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2004.08.006_bib17","first-page":"55","article-title":"Skeletal muscle CT scan and ultrasound imaging in two siblings with central core disease","volume":"22","author":"Arai","year":"1990","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.nmd.2004.08.006_bib18","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/mus.880080514","article-title":"Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy","volume":"8","author":"de Visser","year":"1985","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2004.08.006_bib19","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1002\/(SICI)1097-4598(199611)19:11<1476::AID-MUS12>3.0.CO;2-R","article-title":"Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy","volume":"19","author":"Meola","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2004.08.006_bib20","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1055\/s-2007-973702","article-title":"Calpain-3 deficiency causes a mild muscular dystrophy in childhood","volume":"28","author":"Topaloglu","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nmd.2004.08.006_bib21","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/0887-8994(90)90074-B","article-title":"Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy","volume":"6","author":"Wallgren-Petterson","year":"1990","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.nmd.2004.08.006_bib22","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2004.08.006_bib23","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/S0960-8966(98)00043-1","article-title":"Fifty year follow-up of a patient with central core disease shows slow but definite progression","volume":"8","author":"Lamont","year":"1998","journal-title":"Neuromusc Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604002366?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604002366?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:52:34Z","timestamp":1760773954000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896604002366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["S0960896604002366"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2004.08.006","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2004,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2004.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}