{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T04:16:30Z","timestamp":1768968990940,"version":"3.49.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2002,2,1]],"date-time":"2002-02-01T00:00:00Z","timestamp":1012521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2002,2]]},"DOI":"10.1016\/s0960-8966(01)00243-7","type":"journal-article","created":{"date-parts":[[2002,10,14]],"date-time":"2002-10-14T23:11:54Z","timestamp":1034637114000},"page":"187-194","source":"Crossref","is-referenced-by-count":27,"title":["82nd ENMC international workshop, 5th international Emery\u2013Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15\u201316 September 2000, Naarden, The Netherlands"],"prefix":"10.1016","volume":"12","author":[{"given":"Gis\u00e8le","family":"Bonne","sequence":"first","affiliation":[]},{"given":"Jaqueline","family":"Capeau","sequence":"additional","affiliation":[]},{"given":"Marianne","family":"De Visser","sequence":"additional","affiliation":[]},{"given":"Denis","family":"Duboc","sequence":"additional","affiliation":[]},{"given":"Luciano","family":"Merlini","sequence":"additional","affiliation":[]},{"given":"Glenn E.","family":"Morris","sequence":"additional","affiliation":[]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Recan","sequence":"additional","affiliation":[]},{"given":"Caroline","family":"Sewry","sequence":"additional","affiliation":[]},{"given":"Stefano","family":"Squarzoni","sequence":"additional","affiliation":[]},{"given":"Colin","family":"Stewart","sequence":"additional","affiliation":[]},{"given":"Beril","family":"Talim","sequence":"additional","affiliation":[]},{"given":"Anneke","family":"van der Kooi","sequence":"additional","affiliation":[]},{"given":"Howard","family":"Worman","sequence":"additional","affiliation":[]},{"given":"Ketty","family":"Schwartz","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S0960-8966(01)00243-7_BIB1","first-page":"101","article-title":"Myo-Cluster","volume":"11","author":"Merlini","year":"2001","journal-title":"Neuromusc Disord"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB2","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/S0960-8966(00)00105-X","article-title":"Emery\u2013Dreifuss muscular dystrophy \u2013 a 40 year retrospective","volume":"10","author":"Emery","year":"2000","journal-title":"Neuromusc Disord"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery\u2013Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB4","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB5","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1046\/j.1460-9592.2000.01661.x","article-title":"High incidence of sudden death of conduction system and myocardial disease due to lamins A\/C gene mutation","volume":"23","author":"B\u00e9cane","year":"2000","journal-title":"Pacing Clin Electrophysiol"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB6","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of mutations in the gene encoding lamins A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/72807","article-title":"LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy","volume":"24","author":"Shackleton","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB8","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB9","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1086\/302869","article-title":"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery\u2013Dreifuss muscular dystrophy","volume":"66","author":"di Barletta","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB10","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1161\/01.CIR.101.5.473","article-title":"Lamin A\/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement","volume":"101","author":"Brodsky","year":"2000","journal-title":"Circulation"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB11","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1212\/WNL.55.2.275","article-title":"Autosomal dominant Emery\u2013Dreifuss dystrophy due to mutations in rod domain of the lamin A\/C gene","volume":"55","author":"Felice","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB12","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2337\/diabetes.49.11.1958","article-title":"Lamin A\/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy","volume":"49","author":"Vigouroux","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB13","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1101\/gr.10.5.652","article-title":"Association between nuclear lamin A\/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes","volume":"10","author":"Hegele","year":"2000","journal-title":"Genome Res"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB14","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB15","doi-asserted-by":"crossref","DOI":"10.1046\/j.0305-1846.2001.00323.x","article-title":"Skeletal muscle pathology in autosomal dominant Emery\u2013Dreifuss muscular dystrophy with lamin A\/C mutations","author":"Sewry","year":"2001","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB16","doi-asserted-by":"crossref","first-page":"30008","DOI":"10.1074\/jbc.274.42.30008","article-title":"Prenylated prelamin A interacts with Narf, a novel nuclear protein","volume":"274","author":"Barton","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB17","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/sj.ejhg.5200609","article-title":"The R482Q lamin A\/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin","author":"Holt","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/S0960-8966(01)00243-7_BIB18","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1083\/jcb.147.5.913","article-title":"Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy","volume":"147","author":"Sullivan","year":"1999","journal-title":"J Cell Biol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896601002437?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896601002437?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T12:20:14Z","timestamp":1556886014000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896601002437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["S0960896601002437"],"URL":"https:\/\/doi.org\/10.1016\/s0960-8966(01)00243-7","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2002,2]]}}}