Article
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.
Neurobiology of disease - 1 Oct 2016
Geiger Joshua T, Ding Jinhui, Crain Barbara, Pletnikova Olga, Letson Christopher, Dawson Ted M, Rosenthal Liana S, Pantelyat Alexander, Gibbs J Raphael, Albert Marilyn S, Hernandez Dena G, Hillis Argye E, Stone David J, Singleton Andrew B, Hardy John A, Troncoso Juan C, Scholz Sonja W
Abstract excerpt
Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia after Alzheimer's disease. Although an increasing number of genetic factors have been connected to this debilitating condition, the proportion of cases that can be attributed to distinct genetic defects is unknown. To provide a comprehensive analysis of the frequency and spectrum of pathogenic missense mutations and coding risk...
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