Concepedia

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Oriol Dols‐Icardo, María J. Bullido, Pau Pástor, Eloy Rodríguez‐Rodríguez, Adolfo López de Munain, Marian M. de Pancorbo, Jordi Pérez‐Tur, Victoria Álvarez, Anna Antonell, Jesús López‐Arrieta,

Neurobiology of Aging · 2013 · 120 citations · 13 references

DOI

Concepts

References

13

Clinical diagnosis of Alzheimer's disease

Guy M. McKhann, David A. Drachman, Marshall Folstein et al. · Neurology · 1984 · 28K citations · Full text

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Variant of <i>TREM2</i> Associated with the Risk of Alzheimer's Disease

Thorlákur Jónsson, Hreinn Stefánsson, Stacy Steinberg et al. · New England Journal of Medicine · 2012 · 2.6K citations · Full text

, , +17

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations

, , +17

Are Rare Variants Responsible for Susceptibility to Complex Diseases?

Jonathan K. Pritchard · The American Journal of Human Genetics · 2001 · 1.2K citations · Full text

, , +14

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant P. Christman et al. · The American Journal of Human Genetics · 2002 · 700 citations · Full text

, , +8