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A Novel Presenilin 1 Duplication Mutation (ile168dup) Causing Alzheimer's Disease Associated with Myoclonus, Seizures and Pyramidal Features.

Antoinette O'Connor,Emily Abel, M. R. Fraser,Natalie S. Ryan,Daniel A. Jimenez,Carolin Koriath,Lucia Chavez-Gutierrez,Olaf Ansorge,Catherine J. Mummery,Tammaryn Lashley,Martin N. Rossor,James M. Polke,Simon Mead,Nick C. Fox

Neurobiology of Aging（2021）

引用 2|浏览18
关键词
Early-onset Alzheimer's disease,Familial Alzheimer's disease,PSEN1 mutation,Dementia,Novel mutation
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