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: Lys311Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN1: K311R

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G).

Neurology International

Bisceglia, Paola P; Lo Vecchio, Filomena F; Latino, Raffaela Rita RR; Gravina, Carolina C; Urbano, Maria M; la Torre, Annamaria A; Desina, Gaetano G; Greco, Antonio A; Leone, Maurizio M; Antonioni, Annibale A

Publication Date: 2022-05-16

Variant appearance in text: PSEN1: Lys311Arg; rs115865530

PubMed Link: 35645353

Variant Present in the following documents:

• Main text
• neurolint-14-00034.pdf

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Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research

Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J

Publication Date: 2021

Variant appearance in text: PSEN1: 932A>G; K311R

PubMed Link: 34102969

Variant Present in the following documents:

• CAR-18-265_SD1.pdf

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Blood neuro-exosomal synaptic proteins predict Alzheimer's disease at the asymptomatic stage.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Jia, Longfei L; Zhu, Min M; Kong, Chaojun C; Pang, Yana Y; Zhang, Heng H; Qiu, Qiongqiong Q; Wei, Cuibai C; Tang, Yi Y; Wang, Qi Q; Li, Ying Y; Li, Tingting T; Li, Fangyu F; Wang, Qigeng Q; Li, Yan Y; Wei, Yiping Y; Jia, Jianping J

Publication Date: 2021-01

Variant appearance in text: PSEN1: K311R

PubMed Link: 32776690

Variant Present in the following documents:

• ALZ-17-49.pdf

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: K311R

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: PS1: K311R

PubMed Link: 31937364

Variant Present in the following documents:

• Main text
• 13195_2019_Article_572.pdf

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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: K311R

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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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: K311R; rs115865530

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Gene mutations in a Han Chinese Alzheimer's disease cohort.

Brain And Behavior

Ma, Limin L; Zhang, Jiewen J; Shi, Yingying Y; Wang, Wan W; Ren, Zhixia Z; Xia, Mingrong M; Zhang, Yuanxing Y; Yang, Miaomiao M

Publication Date: 2019-01

Variant appearance in text: PSEN1: K311R

PubMed Link: 30549411

Variant Present in the following documents:

• BRB3-9-e01180.pdf

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