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: Leu418Phe

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: L418F

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.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: L418F

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 role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 1254G>T; Leu418Phe

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

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: Leu418Phe

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

The Embo Journal

Area-Gomez, Estela E; Del Carmen Lara Castillo, Maria M; Tambini, Marc D MD; Guardia-Laguarta, Cristina C; de Groof, Ad J C AJ; Madra, Moneek M; Ikenouchi, Junichi J; Umeda, Masato M; Bird, Thomas D TD; Sturley, Stephen L SL; Schon, Eric A EA

Publication Date: 2012-11-05

Variant appearance in text: PS1: L418F

PubMed Link: 22892566

Variant Present in the following documents:

• emboj2012202s1.pdf

View BVdb publication page

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