{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:44:35Z","timestamp":1790459075978,"version":"4.1.0"},"reference-count":13,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:00:00Z","timestamp":1125532800000},"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":["Brain and Development"],"published-print":{"date-parts":[[2005,9]]},"DOI":"10.1016\/j.braindev.2004.10.003","type":"journal-article","created":{"date-parts":[[2004,12,16]],"date-time":"2004-12-16T20:34:26Z","timestamp":1103229266000},"page":"443-446","source":"Crossref","is-referenced-by-count":43,"title":["Brown\u2013Vialetto\u2013Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease"],"prefix":"10.1016","volume":"27","author":[{"given":"Subrahmanian","family":"Dipti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Childs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Livingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.K.","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanick J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2004.10.003_bib1","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/brain\/115.6.1889","article-title":"Progressive bulbar paralysis of childhood","volume":"115","author":"McShane","year":"1992","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2004.10.003_bib2","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/S0387-7604(02)00085-2","article-title":"Infantile progressive bulbar palsy with deafness","volume":"24","author":"Voudris","year":"2002","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2004.10.003_bib3","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0022-510X(81)90172-6","article-title":"Ponto-bulbar palsy with deafness (Brown\u2013Vialetto\u2013Van Laere syndrome). A report on three cases","volume":"50","author":"Gallai","year":"1981","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2004.10.003_bib4","first-page":"1","article-title":"Contributo alla forma ereditaria della paralisi bulbare progressiva","volume":"40","author":"Vialetto","year":"1936","journal-title":"Riv Sper Freniat"},{"key":"10.1016\/j.braindev.2004.10.003_bib5","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1001\/archneur.1980.00500530052007","article-title":"Progressive bulbar paralysis associated with neural deafness\u2014a nosological entity","volume":"37","author":"Alberca","year":"1980","journal-title":"Arch Neurol"},{"key":"10.1016\/j.braindev.2004.10.003_bib6","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<117::AID-AJMG7>3.0.CO;2-C","article-title":"Brown\u2013Vialetto\u2013Van Laere syndrome in a large inbred Lebanese family:confirmation of autosomal recessive inheritance?","volume":"92","author":"Megarban\u00e8","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.braindev.2004.10.003_bib7","first-page":"158","article-title":"Chronic progressive bulbo-pontine paralysis with deafness: a case of Fazio\u2013Londe syndrome","volume":"40","author":"Arnould","year":"1968","journal-title":"Rev Otoneuroophtalmol"},{"key":"10.1016\/j.braindev.2004.10.003_bib8","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/ana.10769","article-title":"Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita","volume":"54","author":"Kang","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2004.10.003_bib9","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1136\/jmg.27.3.176","article-title":"Pontobulbar palsy and neurosensory deafness (Brown\u2013Vialetto\u2013Van Laere syndrome) with possible autosomal dominant inheritance","volume":"27","author":"Hawkins","year":"1990","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2004.10.003_bib10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1365-2990.1993.tb00409.x","article-title":"Brown\u2013Vialetto\u2013Van Laere syndrome","volume":"19","author":"Francis","year":"1993","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.braindev.2004.10.003_bib11","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1034\/j.1399-0004.2003.00138.x","article-title":"The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings","volume":"64","author":"Devon","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2004.10.003_bib12","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1212\/01.WNL.0000048207.28790.25","article-title":"Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families","volume":"60","author":"Lesca","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2004.10.003_bib13","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1023\/B:BOLI.0000028836.91788.30","article-title":"Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood","volume":"27","author":"Roeleveld-Versteegh","year":"2004","journal-title":"J Inherit Metab Dis"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760404002013?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760404002013?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,31]],"date-time":"2019-01-31T01:27:34Z","timestamp":1548898054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760404002013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["S0387760404002013"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2004.10.003","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}