{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:45:07Z","timestamp":1760982307102},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2007,9,6]],"date-time":"2007-09-06T00:00:00Z","timestamp":1189036800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2007,10,2]]},"DOI":"10.1007\/s00401-007-0292-8","type":"journal-article","created":{"date-parts":[[2007,9,5]],"date-time":"2007-09-05T08:30:46Z","timestamp":1188981046000},"page":"543-545","source":"Crossref","is-referenced-by-count":6,"title":["Alexander disease with occipital predominance and a novel c.799G&gt;C mutation in the GFAP gene"],"prefix":"10.1007","volume":"114","author":[{"given":"Reetta","family":"Hinttala","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vesa","family":"Karttunen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Karttunen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riitta","family":"Herva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Uusimaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Remes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,9,6]]},"reference":[{"key":"292_CR1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2006.03.010","volume":"35","author":"C Caceres-Marzal","year":"2006","unstructured":"Caceres-Marzal C, Vaquerizo J, Galan E, Fernandez S (2006) Early mitochondrial dysfunction in an infant with Alexander disease. Pediatr Neurol 35:293\u2013296","journal-title":"Pediatr Neurol"},{"key":"292_CR2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1146\/annurev.genet.30.1.197","volume":"30","author":"E Fuchs","year":"1996","unstructured":"Fuchs E (1996) The cytoskeleton and disease: genetic disorders of intermediate filaments. Annu Rev Genet 30:197\u2013231","journal-title":"Annu Rev Genet"},{"key":"292_CR3","first-page":"541","volume":"22","author":"MS Knaap van der","year":"2001","unstructured":"van der Knaap MS, Naidu S, Breiter NS, Blaser S, Stroink H, Spreinger S, Bergeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM (2001) Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 22:541\u2013542","journal-title":"Am J Neuroradiol"},{"key":"292_CR4","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ana.20381","volume":"57","author":"MS Knaap van der","year":"2005","unstructured":"van der Knaap MS, Salomons GS, Franzoni E, Gutierrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M (2005) Unusual variants of Alexander\u2019s disease. Ann Neurol 57:327\u2013338","journal-title":"Ann Neurol"},{"key":"292_CR5","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ana.20406","volume":"57","author":"R Li","year":"2005","unstructured":"Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D\u2019Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A,Gutierrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57:310\u2013326","journal-title":"Ann Neurol"},{"key":"292_CR6","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1212\/01.WNL.0000140695.90497.E2","volume":"63","author":"Y Nobuhara","year":"2004","unstructured":"Nobuhara Y, Nakahara K, Higuchi I, Yoshida T, Fushiki S, Osame M, Arimura K, Nakagawa M (2004) Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality. Neurology 63:1302\u20131304","journal-title":"Neurology"},{"key":"292_CR7","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jns.2004.07.008","volume":"225","author":"T Shiihara","year":"2004","unstructured":"Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K (2004) Asymptomatic hereditary Alexander\u2019s disease caused by a novel mutation in GFAP. J Neurol Sci 225:125\u2013127","journal-title":"J Neurol Sci"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-007-0292-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-007-0292-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-007-0292-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T17:23:14Z","timestamp":1559064194000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-007-0292-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,6]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10,2]]}},"alternative-id":["292"],"URL":"https:\/\/doi.org\/10.1007\/s00401-007-0292-8","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,6]]}}}