Publications:

---

Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: R269G

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics

Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C

Publication Date: 2017-11

Variant appearance in text: PSEN1: Arg269Gly

PubMed Link: 29091718

Variant Present in the following documents:

• Main text
• pgen.1007045.pdf

View BVdb publication page

---

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Jama Neurology

Kunkle, Brian W BW; Vardarajan, Badri N BN; Naj, Adam C AC; Whitehead, Patrice L PL; Rolati, Sophie S; Slifer, Susan S; Carney, Regina M RM; Cuccaro, Michael L ML; Vance, Jeffery M JM; Gilbert, John R JR; Wang, Li-San LS; Farrer, Lindsay A LA; Reitz, Christiane C; Haines, Jonathan L JL; Beecham, Gary W GW; Martin, Eden R ER; Schellenberg, Gerard D GD; Mayeux, Richard P RP; Pericak-Vance, Margaret A MA

Publication Date: 2017-09-01

Variant appearance in text: rs63751019

PubMed Link: 28738127

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Arg269Gly

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: R269G

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

---

Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium

Supnet, Charlene C; Bezprozvanny, Ilya I

Publication Date: 2011-09

Variant appearance in text: PS1: R269G

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad

Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I

Publication Date: 2010

Variant appearance in text: PS1: R269G

PubMed Link: 20634584

Variant Present in the following documents:

• Main text

View BVdb publication page

---