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: Glu184Gly

PubMed Link: 36142879

Variant Present in the following documents:

• ijms-23-10970.pdf

View BVdb publication page

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Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.

Alzheimer Disease And Associated Disorders

Galluzzi, Samantha S; Mega, Anna A; Di Fede, Giuseppe G; Muscio, Cristina C; Fascendini, Sara S; Benussi, Luisa L; Tagliavini, Fabrizio F; Frisoni, Giovanni B GB; Di Maria, Emilio E; ,

Publication Date: 2022

Variant appearance in text: PSEN1: Glu184Gly

PubMed Link: 35293381

Variant Present in the following documents:

• wad-36-118.pdf

View BVdb publication page

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Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.

Alzheimer'S Research & Therapy

Mega, Anna A; Galluzzi, Samantha S; Bonvicini, Cristian C; Fostinelli, Silvia S; Gennarelli, Massimo M; Geroldi, Cristina C; Zanetti, Orazio O; Benussi, Luisa L; Di Maria, Emilio E; Frisoni, Giovanni B GB

Publication Date: 2020-11-17

Variant appearance in text: PSEN1: E184G

PubMed Link: 33203472

Variant Present in the following documents:

• Main text
• 13195_2020_Article_720.pdf

View BVdb publication page

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: E184G

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.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: 551A>G; E184G; rs1566641934

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.pdf
• diagnostics-10-00135-s001.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: 551A>G; Glu184Gly

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: E184G

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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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: PSEN1: E184G

PubMed Link: 30917570

Variant Present in the following documents:

• Main text
• ijms-20-01514.pdf
• ijms-20-01514-s001.pdf

View BVdb publication page

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