Muchnik C, Olivar N, Dalmasso MC, Azurmendi PJ, Liberczuk C, Morelli L, Brusco LI

Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.

Neurobiol Aging 36:2674-7.e1 (2015)
DOI:10.1016/j.neurobiolaging.2015.06.011

Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

Nature 376:775-8 (1995)
DOI:10.1038/376775a0

Lleo A, Blesa R, Gendre J, Castellvi M, Pastor P, Queralt R, Oliva R

A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

Neurology 57:1926-8 (2001)
DOI:10.1212/wnl.57.10.1926

Ezquerra M, Lleo A, Castellvi M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Arch Neurol 60:1149-51 (2003)
DOI:10.1001/archneur.60.8.1149