Publications:

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: APP: L171P

PubMed Link: 35365805

Variant Present in the following documents:

• 41380_2022_Article_1518.pdf

View BVdb publication page

Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: APP: L171P

PubMed Link: 32973976

Variant Present in the following documents:

• 1980-5764-dn-14-03-223.pdf

View BVdb publication page