Publications:

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PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports

Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS

Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Leu282Phe

PubMed Link: 32103039

Variant Present in the following documents:

• Main text
• 41598_2020_Article_59829.pdf

View BVdb publication page

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Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation

Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY

Publication Date: 2019-12

Variant appearance in text: PSEN1: L282F

PubMed Link: 31722555

Variant Present in the following documents:

• 10.1177_0963689719886534.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Leu282Phe

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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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: L282F

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science

Majolo, Fernanda F; Marinowic, Daniel Rodrigo DR; Machado, Denise Cantarelli DC; Da Costa, Jaderson Costa JC

Publication Date: 2019-02-06

Variant appearance in text: PS1: L282F

PubMed Link: 30728025

Variant Present in the following documents:

• Main text
• 12929_2019_Article_501.pdf

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

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

Publication Date: 2016

Variant appearance in text: S182: L282F

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: 844C>T; Leu282Phe

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.pdf

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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: Leu282Phe

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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