{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T08:38:01Z","timestamp":1792226281557,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,1,25]],"date-time":"2017-01-25T00:00:00Z","timestamp":1485302400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,1,25]],"date-time":"2017-01-25T00:00:00Z","timestamp":1485302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenat Diagn"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1002\/pd.4977","type":"journal-article","created":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T06:42:40Z","timestamp":1481265760000},"page":"144-150","source":"Crossref","is-referenced-by-count":26,"title":["Mutations in the <i>NEB<\/i>\n gene cause fetal akinesia\/arthrogryposis multiplex congenita"],"prefix":"10.1002","volume":"37","author":[{"given":"Michal","family":"Feingold-Zadok","sequence":"first","affiliation":[{"name":"Genetic Institute; Assaf Harofeh Medical Center; Zerifin Israel"},{"name":"Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel"},{"name":"Department of Obstetrics and Gynecology Ward, Ultrasound Unit; Assaf Harofeh Medical Center; Zerifin Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and gynecology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Chong","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and gynecology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Injeyan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and gynecology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Chapmann","sequence":"additional","affiliation":[{"name":"Genetic Institute; Assaf Harofeh Medical Center; Zerifin Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron","family":"Maymon","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel"},{"name":"Department of Obstetrics and Gynecology Ward, Ultrasound Unit; Assaf Harofeh Medical Center; Zerifin Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nir","family":"Pillar","sequence":"additional","affiliation":[{"name":"Bioinformatic Division, Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orit","family":"Reish","sequence":"additional","affiliation":[{"name":"Genetic Institute; Assaf Harofeh Medical Center; Zerifin Israel"},{"name":"Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,25]]},"reference":[{"key":"10.1002\/pd.4977-BIB0001|pd4977-cit-0001","unstructured":"GeneReviews\u00aeInternet Nemaline myopathy"},{"issue":"12","key":"10.1002\/pd.4977-BIB0002|pd4977-cit-0002","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1002\/humu.22693","article-title":"Mutation update: the spectra of nebulin variants and associated myopathies","volume":"35","author":"Lehtokari","year":"2014","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1002\/pd.4977-BIB0003|pd4977-cit-0003","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1097\/WCO.0b013e328364d681","article-title":"Recent advances in nemaline myopathy","volume":"26","author":"Romero","year":"2013","journal-title":"Curr Opin Neurol"},{"issue":"3","key":"10.1002\/pd.4977-BIB0004|pd4977-cit-0004","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ana.1080","article-title":"Nemaline myopathy: a clinical study of 143 cases","volume":"50","author":"Ryan","year":"2001","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1002\/pd.4977-BIB0005|pd4977-cit-0005","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1055\/s-2007-973683","article-title":"Fetal akinesia sequence caused by nemaline myopathy","volume":"28","author":"Lammens","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1002\/pd.4977-BIB0006|pd4977-cit-0006","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/2051-5960-2-44","article-title":"Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype","volume":"2","author":"Malfatti","year":"2014","journal-title":"Acta Neuropathol Commun"},{"issue":"7-8","key":"10.1002\/pd.4977-BIB0007|pd4977-cit-0007","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/S0960-8966(02)00065-2","article-title":"Mutations in the nebulin gene can cause severe congenital nemaline myopathy","volume":"12","author":"Wallgren-Pettersson","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/pd.4977-BIB0008|pd4977-cit-0008","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/pd.2905","article-title":"Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy","volume":"32","author":"Yonath","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4977-BIB0009|pd4977-cit-0009","unstructured":"Ludtke A Kornreich R Winder T et al. Novel NEB mutation in an Ashkenazi Jewish infant with severe congenital nemaline myopathy"},{"issue":"8","key":"10.1002\/pd.4977-BIB0010|pd4977-cit-0010","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ejmg.2014.03.008","article-title":"Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles","volume":"57","author":"Hall","year":"2014","journal-title":"Eur J Med Genet"},{"issue":"1","key":"10.1002\/pd.4977-BIB0011|pd4977-cit-0011","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2013.05.004","article-title":"Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy","volume":"93","author":"Ravenscroft","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1002\/pd.4977-BIB0012|pd4977-cit-0012","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00401-012-1024-2","article-title":"Myosinopathies: pathology and mechanisms","volume":"125","author":"Tajsharghi","year":"2013","journal-title":"Acta Neuropathol"},{"issue":"6","key":"10.1002\/pd.4977-BIB0013|pd4977-cit-0013","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ajhg.2015.04.014","article-title":"Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita","volume":"96","author":"Ravenscroft","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1002\/pd.4977-BIB0014|pd4977-cit-0014","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/2044-5040-1-23","article-title":"Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy","volume":"1","author":"Lawlor","year":"2011","journal-title":"Skelet Muscle"},{"issue":"3","key":"10.1002\/pd.4977-BIB0015|pd4977-cit-0015","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s12031-016-0739-2","article-title":"New mutations in NEB gene discovered by targeted next-generation sequencing in nemaline myopathy Italian patients","volume":"59","author":"Piga","year":"2016","journal-title":"J Mol Neurosci"},{"issue":"4","key":"10.1002\/pd.4977-BIB0016|pd4977-cit-0016","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1001\/jamaneurol.2014.4496","article-title":"Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease","volume":"72","author":"Akman","year":"2015","journal-title":"JAMA Neurol"},{"key":"10.1002\/pd.4977-BIB0017|pd4977-cit-0017","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/2044-5040-4-15","article-title":"Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations","volume":"4","author":"Marttila","year":"2014","journal-title":"Skelet Muscle"},{"issue":"6","key":"10.1002\/pd.4977-BIB0018|pd4977-cit-0018","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1055\/s-2008-1073045","article-title":"Lethal arthrogryposis in Finland-a clinico-pathological study of 83 cases during thirteen years","volume":"25","author":"Vuopala","year":"1994","journal-title":"Neuropediatrics"},{"key":"10.1002\/pd.4977-BIB0019|pd4977-cit-0019","doi-asserted-by":"crossref","first-page":"264918","DOI":"10.5402\/2012\/264918","article-title":"Diagnosing arthrogryposis multiplex congenita: a review","volume":"2012","author":"Kalampokas","year":"2012","journal-title":"ISRN Obstet Gynecol"},{"issue":"10","key":"10.1002\/pd.4977-BIB0020|pd4977-cit-0020","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1002\/pd.4675","article-title":"Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities","volume":"35","author":"Drury","year":"2015","journal-title":"Prenat Diagn"},{"issue":"1","key":"10.1002\/pd.4977-BIB0021|pd4977-cit-0021","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/pd.4718","article-title":"Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?","volume":"36","author":"Chitty","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4977-BIB0022|pd4977-cit-0022","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s00439-004-1140-8","article-title":"Nemalin myopathy in Ashkenazi Jewish population is caused by a deletion in the nebulin gene","volume":"115","author":"Anderson","year":"2004","journal-title":"Hum Gene"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4977","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/pd.4977","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,8,6]],"date-time":"2018-08-06T22:50:58Z","timestamp":1533595858000},"score":1,"resource":{"primary":{"URL":"http:\/\/doi.wiley.com\/10.1002\/pd.4977"}},"subtitle":["Mutated <i>NEB<\/i>\n causes severe fetal nemaline myopathy"],"short-title":[],"issued":{"date-parts":[[2017,1,25]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"URL":"https:\/\/doi.org\/10.1002\/pd.4977","archive":["Portico"],"relation":{},"ISSN":["0197-3851"],"issn-type":[{"value":"0197-3851","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,25]]}}}