{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T18:12:19Z","timestamp":1759774339785},"reference-count":14,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,6,14]],"date-time":"2017-06-14T00:00:00Z","timestamp":1497398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurolog\u00eda"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1016\/j.nrl.2017.05.002","type":"journal-article","created":{"date-parts":[[2017,7,14]],"date-time":"2017-07-14T13:31:37Z","timestamp":1500039097000},"page":"139-141","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Miastenia cong\u00e9nita y defecto cong\u00e9nito de la glucosilaci\u00f3n por mutaciones en el gen DPAGT1"],"prefix":"10.1016","volume":"34","author":[{"given":"S.","family":"Ib\u00e1\u00f1ez-Mic\u00f3","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Domingo Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"P\u00e9rez-Cerd\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ghandour-Fabre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nrl.2017.05.002_bib0075","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/humu.21126","article-title":"Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides","volume":"30","author":"Haeuptle","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nrl.2017.05.002_bib0080","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1749-6632.2012.06790.x","article-title":"Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome","volume":"1275","author":"Belaya","year":"2012","journal-title":"Ann N Y Acad Sci."},{"key":"10.1016\/j.nrl.2017.05.002_bib0085","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.nmd.2016.08.005","article-title":"Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up","volume":"26","author":"Natera-de Benito","year":"2016","journal-title":"Neuromuscul Disord."},{"key":"10.1016\/j.nrl.2017.05.002_bib0090","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.nmd.2015.10.013","article-title":"Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations","volume":"26","author":"Natera-de Benito","year":"2016","journal-title":"Neuromuscul Disord."},{"key":"10.1016\/j.nrl.2017.05.002_bib0095","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1136\/jnnp-2016-313163","article-title":"Clinical features of the myasthenic syndrome arising from mutations in GMPPB","volume":"87","author":"Rodr\u00edguez Cruz","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"10.1016\/j.nrl.2017.05.002_bib0100","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1093\/brain\/awt042","article-title":"Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes","volume":"136","author":"Houlden","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2017.05.002_bib0105","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1002\/ajmg.a.35472","article-title":"DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype","volume":"158A","author":"Arroyo Carrera","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.nrl.2017.05.002_bib0110","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/humu.10239","article-title":"Deficiency of UDP-GlcNAc: Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij","volume":"22","author":"Wu","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nrl.2017.05.002_bib0115","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ymgme.2012.01.001","article-title":"Congenital disorder of glycosylation type Ij (CDG-Ij DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease","volume":"105","author":"Wurde","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nrl.2017.05.002_bib0120","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1212\/WNL.0b013e3181dc1b1e","article-title":"The MG Composite: A valid and reliable outcome measure for myasthenia gravis","volume":"74","author":"Burns","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2017.05.002_bib0125","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1023\/B:NEUR.0000020632.41508.83","article-title":"Glycobiology of the neuromuscular junction","volume":"32","author":"Martin","year":"2003","journal-title":"J Neurocytol"},{"key":"10.1016\/j.nrl.2017.05.002_bib0130","article-title":"Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation","volume":"23","author":"Jaeken","year":"2015","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.nrl.2017.05.002_bib0135","doi-asserted-by":"crossref","first-page":"1822","DOI":"10.1212\/WNL.0000000000000435","article-title":"DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies","volume":"82","author":"SelcenF D.","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2017.05.002_bib0140","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.nmd.2013.03.003","article-title":"Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutationin DPAGT1","volume":"23","author":"Basiri","year":"2013","journal-title":"Neuromuscul Disord."}],"container-title":["Neurolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485317302153?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485317302153?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,26]],"date-time":"2019-02-26T08:13:15Z","timestamp":1551168795000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0213485317302153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["S0213485317302153"],"URL":"https:\/\/doi.org\/10.1016\/j.nrl.2017.05.002","relation":{},"ISSN":["0213-4853"],"issn-type":[{"value":"0213-4853","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Miastenia cong\u00e9nita y defecto cong\u00e9nito de la glucosilaci\u00f3n por mutaciones en el gen DPAGT1","name":"articletitle","label":"Article Title"},{"value":"Neurolog\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nrl.2017.05.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Sociedad Espa\u00f1ola de Neurolog\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}