Molecular genetics of Alzheimer's disease

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

1991 • 4,533 citations

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

1993 • 4,145 citations

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1995 • 3,985 citations

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

1993 • 3,693 citations

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

1995 • 2,548 citations

Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

1996 • 2,543 citations

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1995 • 2,028 citations

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease

1994 • 1,813 citations

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

1987 • 1,589 citations

Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo

1996 • 1,467 citations

Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1

1996 • 1,439 citations

Amyloid, the presenilins and Alzheimer's disease

1997 • 1,370 citations

Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type

1990 • 1,361 citations

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease.

1993 • 1,329 citations

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice

1997 • 1,259 citations

The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21

1987 • 1,149 citations

Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease

1991 • 1,133 citations

A new A4 amyloid mRNA contains a domain homologous to serine proteinase inhibitors

1988 • 1,052 citations

Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14

1992 • 941 citations

A Familial Alzheimer's Disease Locus on Chromosome 1

1995 • 810 citations

Apolipoprotein E: A pathological chaperone protein in patients with cerebral and systemic amyloid

1992 • 802 citations

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

1991 • 762 citations

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

1992 • 725 citations

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14

1992 • 458 citations

Dementia of the Alzheimer Type

1981 • 451 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

Alzheimer's disease in Down's syndrome

1985 • 393 citations

Protein Topology of Presenilin 1

1996 • 374 citations

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

1997 • 367 citations

A4POE*4-associated Alzheimer's disease risk is modified by α1–antichymotrypsin polymorphism

1995 • 337 citations

The pathological association between down syndrome and Alzheimer disease

1988 • 334 citations

Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3

1992 • 332 citations

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12

1997 • 322 citations

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant

1996 • 301 citations

PRESENILE DEMENTIA AND ALZHEIMER'S DISEASE IN MONGOLISM

1969 • 292 citations

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

1995 • 270 citations

A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene

1992 • 267 citations

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease

1996 • 244 citations

Identification and differential expression of a novel alternative splice isoform of the beta A4 amyloid precursor protein (APP) mRNA in leukocytes and brain microglial cells.

1992 • 215 citations

Synergy Between the Genes for Butyrylcholinesterase K Variant and Apolipoprotein E4 in Late-Onset Confirmed Alzheimer's Disease

1997 • 201 citations

Complete Genomic Screen in Late-Onset Familial Alzheimer Disease

1997 • 198 citations

Presenilin mutations in Alzheimer's disease

1998 • 191 citations

Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease

1995 • 171 citations

The presenilin genes: a new gene family involved in Alzheimer disease pathology

1996 • 165 citations

Beta A4-amyloid protein precursor mRNA isoforms without exon 15 are ubiquitously expressed in rat tissues including brain, but not in neurons.

1994 • 160 citations

Evidence for a Six-transmembrane Domain Structure of Presenilin 1

1997 • 154 citations

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

1996 • 151 citations

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease

1994 • 131 citations

The apolipoprotein E ε2 allele is associated with an increased risk of early‐onset alzheimer's disease and a reduced survival

1995 • 130 citations

History of dementia and Parkinson's disease in 1st‐degree relatives of patients with Alzheimer's disease

1989 • 118 citations

Genetic studies in Alzheimer's disease with an NACP/α‐synuclein polymorphism

1996 • 110 citations

The rise and fall of positional cloning?

1993 • 104 citations

Allelic functional variation of serotonin transporter expression is a susceptibility factor for late onset Alzheimerʼs disease

1997 • 100 citations

Molecular Genetics of Alzheimer Disease: Identification of Genes and Gene Mutations

1995 • 98 citations

Mutant Presenilin 2 Transgenic Mouse: Effect on an Age-Dependent Increase of Amyloid β-Protein 42 in the Brain

1998 • 93 citations

The CYP2D6B mutant allele is overrepresented in the Lewy body variant of Alzheimer's disease

1995 • 90 citations

Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type

1987 • 86 citations

Evidence for association of HLA-A2 allele with onset age of Alzheimer's disease

1997 • 85 citations

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

1991 • 77 citations

Apolipoprotein E genotypes and age of onset in early‐onset familial Alzheimer's disease

1995 • 69 citations

The inheritance of alzheimer's disease: A new interpretation

1988 • 65 citations

Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease

1996 • 64 citations

The genetics of alzheimer's disease: A review and a discussion of the implications

1986 • 60 citations

Hereditary cerebral hemorrhage with amyloidosis — Dutch type: its importance for Alzheimer research

1991 • 50 citations

HLA-DR antigens associated with major genetic risk for late-onset Alzheimerʼs disease

1997 • 43 citations

Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type

1987 • 39 citations

Glucose signal in the nucleus of the vagus nerve modulates the cyclicity of gastric motility in rats

1994 • 12 citations