Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-005-0019-5.pdf
Reference189 articles.
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2. Aldudo J, Bullido MJ, Frank A, Valdivieso F (1998) Missense mutation E318G of the presenilin –1 gene appears to be a nonpathogenic polymorphism. Ann Neurol 44:985–986
3. Aldudo J, Bullido MJ, Valdivieso F (1999) DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin –1 gene: two novel mutations. Hum Mutat 14:433–439
4. Amtul Z, Lewis PA, Piper S, et al. (2002) A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma –secretase cleavage of APP and Notch. Neurobiol Dis 9:269–273
5. Aoki M, Abe K, Oda N, et al. (1997) A presenilin –1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 48:1118–1120
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