Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

1983 • 11,902 citations

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1991 • 4,533 citations

Matlnd and Matlnspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

1995 • 2,642 citations

Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

1995 • 2,548 citations

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

1998 • 1,786 citations

The Neuron-Restrictive Silencer Factor (NRSF): A Coordinate Repressor of Multiple Neuron-Specific Genes

1995 • 1,078 citations

REST: A mammalian silencer protein that restricts sodium channel gene expression to neurons

1995 • 1,078 citations

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

1994 • 449 citations

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1998 • 431 citations

Risk Estimates of Dementia by Apolipoprotein E Genotypes From a Population-Based Incidence Study: The Rotterdam Study

1998 • 394 citations

alpha-synuclein gene haplotypes are associated with Parkinson's disease

2001 • 347 citations

Metabolism of the “Swedish” Amyloid Precursor Protein Variant in Neuro2a (N2a) Cells

1996 • 308 citations

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

1995 • 270 citations

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

2001 • 241 citations

Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

1998 • 232 citations

Presenilin mutations in Alzheimer's disease

1998 • 191 citations

Complete analysis of the presenilin 1 gene in early onset Alzheimerʼs disease

1996 • 151 citations

Analysis of the 5′ Sequence, Genomic Structure, and Alternative Splicing of thepresenilin-1Gene (PSEN1) Associated with Early Onset Alzheimer Disease

1997 • 126 citations

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

2000 • 95 citations

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

2000 • 85 citations

The −48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain

2001 • 63 citations

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

1999 • 51 citations

Structural and Functional Characterization of the Human α3 Nicotinic Subunit Gene Promoter

1997 • 49 citations

Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD

2002 • 46 citations

Genetic Epidemiology of Alzheimer Disease

1997 • 45 citations

Antisense‐Induced Reduction of Presenilin 1 Expression Selectively Increases the Production of Amyloid β42 in Transfected Cells

1999 • 45 citations

An Upstream Element Containing an ETS Binding Site Is Crucial for Transcription of the Human Presenilin-1 Gene

1999 • 42 citations

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA

1999 • 8 citations

Variable neuron-specific presenilin 1 transcription increases risk for Alzheimer's disease

2000 • 4 citations