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- Publications
- Influence
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- A. Renton, Elisa Majounie, +73 authors B. Traynor
- Biology, Medicine
- Neuron
- 20 October 2011
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common… Expand
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
- D. Harold, Richard Abraham, +84 authors J. Williams
- Biology
- Nature Genetics
- 1 May 2013
Nature GeNetics ADVANCE ONLINE PUBLICATION We undertook a two-stage genome-wide association study (GWAS) of Alzheimer’s disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to… Expand
Endoproteolysis of Presenilin 1 and Accumulation of Processed Derivatives In Vivo
- G. Thinakaran, D. Borchelt, +14 authors S. Sisodia
- Biology, Medicine
- Neuron
- 1 July 1996
The majority of early-onset cases of familial Alzheimer's disease (FAD) are linked to mutations in two related genes, PS1 and PS2, located on chromosome 14 and 1, respectively. Using two highly… Expand
Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease
- D. Harold, Richard Abraham, +83 authors J. Williams
- Psychology
- 2009
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848… Expand
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
- A. Baum, N. Akula, +17 authors F. McMahon
- Biology, Medicine
- Molecular Psychiatry
- 1 February 2008
The genetic basis of bipolar disorder has long been thought to be complex, with the potential involvement of multiple genes, but methods to analyze populations with respect to this complexity have… Expand
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
- D. Scheuner, C. Eckman, +18 authors S. Younkin
- Medicine
- Nature Medicine
- 1 August 1996
To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid β-protein precursor (APP) mutations linked to familial Alzheimer's disease (FAD) increase the extracellular concentration… Expand
Toxic Proteins in Neurodegenerative Disease
- J. Taylor, J. Hardy, K. Fischbeck
- Biology, Medicine
- Science
- 14 June 2002
A broad range of neurodegenerative disorders is characterized by neuronal damage that may be caused by toxic, aggregation-prone proteins. As genes are identified for these disorders and cell culture… Expand
The Neuropathology and Neurobiology of Traumatic Brain Injury
- K. Blennow, J. Hardy, H. Zetterberg
- Psychology, Medicine
- Neuron
- 6 December 2012
The acute and long-term consequences of traumatic brain injury (TBI) have received increased attention in recent years. In this Review, we discuss the neuropathology and neural mechanisms associated… Expand
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
- E. Reiman, Jennifer A. Webster, +31 authors D. Stephan
- Medicine
- Neuron
- 2007
The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome-wide surveys of 502,627 single-nucleotide… Expand
GAB2 Alleles Modify Alzheimer's Risk in APOE ɛ4 Carriers
- E. Reiman, Jennifer A. Webster, +31 authors D. Stephan
- Biology
- Neuron
- 7 June 2007
The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome-wide surveys of 502,627 single-nucleotide… Expand