Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

@inproceedings{Sassi2014InvestigatingTR,
  title={Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease},
  author={Celeste Sassi and R Guerreiro and Raphael Gibbs and Jinhui Ding and Michelle K Lupton and Claire Troakes and Safa Al-Sarraj and Michael Niblock and Jean-Marc Gallo and Jihad Adnan and Richard Killick and Kristelle S. Brown and Christopher Medway and Jenny Lord and James Turton and Jos{\'e} Miguel Br{\'a}s and Kevin Morgan and John Powell and Andrew B. Singleton and John Hardy},
  booktitle={Neurobiology of Aging},
  year={2014}
}
The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer's disease (LOAD), familial Alzheimer's disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders. To investigate this intriguing hypothesis, we analyzed rare… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 40 REFERENCES

Alzheimer’s Disease Neuroimaging Initiative, Genetic and Environmental Risk for Alzheimer’s Disease

B. A. Benitez, C. M. Karch, +7 authors D. A. Bennett
  • 2013
VIEW 1 EXCERPT

Meta-analysis of 74,046 individuals

E. R. Martin, R. Schmidt, +23 authors P. Amouyel
  • 2013

Rare coding variants

Vardy, E.R.L.C, +23 authors A. M. Goate
  • 2013

A mutation in APP

T. Jonsson, J. K. Atwal, +24 authors K. Stefansson
  • 2012