{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1361137043750262016.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1212/wnl.59.2.284"}},{"identifier":{"@type":"URI","@value":"https://www.neurology.org/doi/pdfdirect/10.1212/WNL.59.2.284"}}],"dc:title":[{"@value":"Autosomal recessive inheritance of\n            <i>RYR1</i>\n            mutations in a congenital myopathy with cores"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1381137043750262021","@type":"Researcher","foaf:name":[{"@value":"H. Jungbluth"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1380861712579102336","@type":"Researcher","foaf:name":[{"@value":"C. R. Müller"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262020","@type":"Researcher","foaf:name":[{"@value":"B. Halliger–Keller"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262026","@type":"Researcher","foaf:name":[{"@value":"M. Brockington"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262022","@type":"Researcher","foaf:name":[{"@value":"S. C. Brown"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262017","@type":"Researcher","foaf:name":[{"@value":"L. Feng"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262018","@type":"Researcher","foaf:name":[{"@value":"A. Chattopadhyay"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262273","@type":"Researcher","foaf:name":[{"@value":"E. Mercuri"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262024","@type":"Researcher","foaf:name":[{"@value":"A. Y. Manzur"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262023","@type":"Researcher","foaf:name":[{"@value":"A. Ferreiro"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262025","@type":"Researcher","foaf:name":[{"@value":"N. G. Laing"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262272","@type":"Researcher","foaf:name":[{"@value":"M. R. Davis"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262016","@type":"Researcher","foaf:name":[{"@value":"H. P. Roper"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262027","@type":"Researcher","foaf:name":[{"@value":"V. Dubowitz"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262144","@type":"Researcher","foaf:name":[{"@value":"G. Bydder"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262145","@type":"Researcher","foaf:name":[{"@value":"C. A. Sewry"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]},{"@id":"https://cir.nii.ac.jp/crid/1381137043750262146","@type":"Researcher","foaf:name":[{"@value":"F. Muntoni"}],"jpcoar:affiliationName":[{"@value":"From the Dubowitz Neuromuscular Centre (Drs. Jungbluth, Brown, Chattopadhyay, Mercuri, Manzur, Dubowitz, Sewry, and Muntoni, M. Brockington and L. Feng) and Robert Steiner MRI Unit (Dr. Bydder), Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London; Department of Child Health (Dr. Roper), Birmingham Heartlands Hospital; Department of Histopathology (Dr. Sewry), Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom; Institut für Humangenetik (Drs. Müller..."}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00283878"},{"@type":"EISSN","@value":"1526632X"}],"prism:publicationName":[{"@value":"Neurology"}],"dc:publisher":[{"@value":"Ovid Technologies (Wolters Kluwer Health)"}],"prism:publicationDate":"2002-07-23","prism:volume":"59","prism:number":"2","prism:startingPage":"284","prism:endingPage":"287"},"reviewed":"false","url":[{"@id":"https://www.neurology.org/doi/pdfdirect/10.1212/WNL.59.2.284"}],"createdAt":"2012-05-13","modifiedAt":"2024-03-27","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360567189446783872","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Calcium Dyshomeostasis in Tubular Aggregate Myopathy"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1212/wnl.59.2.284"},{"@type":"CROSSREF","@value":"10.3390/ijms17111952_references_DOI_LFAqecellho9cgVeHBzNskiRU4t"}]}