Published in Neurosci Lett on February 02, 2014
Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T). J Neural Transm (Vienna) (2015) 0.75
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
Genetic insights in Alzheimer's disease. Lancet Neurol (2013) 1.96
Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology (2003) 1.71
Genetics of Alzheimer disease. J Geriatr Psychiatry Neurol (2010) 1.68
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet (2005) 1.60
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Neurology (2010) 1.59
The genetics and neuropathology of Alzheimer's disease. Acta Neuropathol (2012) 1.56
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics (2006) 1.24
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. Hum Mutat (1997) 1.12
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. J Neurosci (2013) 1.08
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet (2001) 1.00
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol (2002) 0.96
The genetics of very early onset Alzheimer disease. Cogn Behav Neurol (2007) 0.94
Spanish multicenter normative studies (Neuronorma project): norms for the abbreviated Barcelona Test. Arch Clin Neuropsychol (2010) 0.89
Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians. Forensic Sci Int Genet (2013) 0.85
Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation. Arch Neurol (2001) 0.82
And four equals one: presenilin takes the gamma-secretase role by itself. Proc Natl Acad Sci U S A (2010) 0.81
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease. Hum Mutat (2000) 0.79