Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

(2011) Hon-Cheong So et al.   GENETIC EPIDEMIOLOGY

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

(2011) Adam C Naj et al.   NATURE GENETICS

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE

(2011) Ellen M. Wijsman et al.   PLoS Genetics

Alzheimer Disease–like Phenotype Associated With the c.154delA Mutation in Progranulin

(2010) Brendan J. Kelley et al.   ARCHIVES OF NEUROLOGY

Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2

(2010) Suman Jayadev et al.   BRAIN

A novel PSEN1 mutation (K239N) associated with Alzheimer’s disease with wide range age of onset and slow progression

(2010) A. Lladó et al.   EUROPEAN JOURNAL OF NEUROLOGY

High-throughput discovery of rare insertions and deletions in large cohorts

(2010) F. L. M. Vallania et al.   GENOME RESEARCH

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genetics of Alzheimer disease in the pre- and post-GWAS era

(2010) Nilüfer Ertekin-Taner   Alzheimers Research & Therapy

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options

(2009) A. C. Ludolph et al.   EUROPEAN JOURNAL OF NEUROLOGY

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity

(2009) Minji Kim et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

(2009) Jean-Charles Lambert et al.   NATURE GENETICS

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

(2009) Denise Harold et al.   NATURE GENETICS

Quantification of rare allelic variants from pooled genomic DNA

(2009) Todd E Druley et al.   NATURE METHODS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas

(2008) D. Azzopardi et al.   CANCER RESEARCH

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation

(2008) S. G. Lindquist et al.   EUROPEAN JOURNAL OF NEUROLOGY

Novel exon 1 progranulin gene variant in Alzheimer’s disease

(2008) F. Cortini et al.   EUROPEAN JOURNAL OF NEUROLOGY

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

(2008) Emmanuelle Masson et al.   HUMAN GENETICS

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

(2008) Livia Bernardi et al.   NEUROBIOLOGY OF AGING

Clinical and pathological features of an Alzheimer's disease patient with the MAPT ΔK280 mutation

(2007) Parastoo Momeni et al.   NEUROBIOLOGY OF AGING