Publications:

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A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer's Disease in a Chinese Family.

Frontiers In Genetics

Jiang, Bin B; Bi, Min M; Li, Jun J; Liu, Qi Q; Xiao, Nai-An NA; Fang, Jie J; Shi, Man-Yi MY; Yu, Zi-Wen ZW; Ma, Qi-Lin QL; Tong, Sui-Jun SJ; Zheng, Kun-Mu KM

Publication Date: 2020

Variant appearance in text: PSEN1: Phe177Ser

PubMed Link: 32754199

Variant Present in the following documents:

• Main text
• fgene-11-00713.pdf

View BVdb publication page

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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: F177S

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

View BVdb publication page

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: F177S

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: F177S

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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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: Phe177Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease

Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R

Publication Date: 2012

Variant appearance in text: PSEN1: Phe177Ser

PubMed Link: 23383383

Variant Present in the following documents:

• Main text

View BVdb publication page

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