An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
作者信息
Dotti Maria Teresa, Buccoliero Rosaria, Lee Andrew, Gorospe J Raphael, Flint Daniel, Galluzzi Paolo, Bianchi Silvia, D'Eramo Camilla, Naidu Sakkubai, Federico Antonio, Brenner Michael
出版信息
J Neurol. 2009 Apr;256(4):679-82. doi: 10.1007/s00415-009-0147-4. Epub 2009 Apr 27.
Abstract
摘要
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Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18.
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Neurology. 2006 Feb 28;66(4):494-8. doi: 10.1212/01.wnl.0000198770.80743.37.
3
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20.
4
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
Clin Neurol Neurosurg. 2006 Oct;108(7):692-8. doi: 10.1016/j.clineuro.2005.06.007. Epub 2005 Aug 15.
5
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Eur Neurol. 2003;50(2):100-5. doi: 10.1159/000072507.
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Neurology. 2002 May 28;58(10):1494-500. doi: 10.1212/wnl.58.10.1494.
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Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20.
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