{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:27Z","timestamp":1786976847469,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,6,28]],"date-time":"2004-06-28T00:00:00Z","timestamp":1088380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Muscle\u2010eye\u2010brain disease (MEB), is caused by mutations in the\n                    <jats:italic>POMGnT1<\/jats:italic>\n                    gene. We describe a white family with two siblings affected with congenital hypotonia early\u2010onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel\n                    <jats:italic>POMGnT1<\/jats:italic>\n                    gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population. Ann Neurol 2004;56:143\u2013148\n                  <\/jats:p>","DOI":"10.1002\/ana.20172","type":"journal-article","created":{"date-parts":[[2004,6,28]],"date-time":"2004-06-28T13:08:08Z","timestamp":1088428088000},"page":"143-148","source":"Crossref","is-referenced-by-count":31,"title":["<i>POMGnT1<\/i>\n                    gene alterations in a family with neurological abnormalities"],"prefix":"10.1002","volume":"56","author":[{"given":"Virginie S.","family":"Vervoort","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kennedy C.","family":"Ukadike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julianne S.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Saul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand K.","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(89)80088-9"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(81)80002-2"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320213"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.8.1059"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(01)00070-3"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/28653"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/342975"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)11397-3"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg307"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302206"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg043"},{"key":"e_1_2_6_13_2","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak L","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5924"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200877"},{"issue":"7","key":"e_1_2_6_16_2","first-page":"S154","article-title":"PomGnT1 gene mutations in a family with mental retardation, glaucoma, and congential muscular dystrophy","volume":"54","author":"Vervoort VS","year":"2003","journal-title":"Ann Neurol"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00924-0"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(03)00036-5"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20172","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:52:35Z","timestamp":1697500355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,28]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["10.1002\/ana.20172"],"URL":"https:\/\/doi.org\/10.1002\/ana.20172","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,28]]}}}