Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu113Gln

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Leu113Gln

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Leu113Gln

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.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: L113Q

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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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Leu113Gln

PubMed Link: 30200536

Variant Present in the following documents:

• Main text
• ijms-19-02604.pdf

View BVdb publication page

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PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging

Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2016

Variant appearance in text: PSEN1: L113Q

PubMed Link: 27785004

Variant Present in the following documents:

• Main text
• cia-11-1433.pdf

View BVdb publication page

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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: Leu113Gln

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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