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: Ser169Leu

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Alzheimer's disease and epilepsy: The top 100 cited papers.

Frontiers In Aging Neuroscience

Zhang, Gui-Fen GF; Gong, Wen-Xin WX; Xu, Zheng-Yan-Ran ZY; Guo, Yi Y

Publication Date: 2022

Variant appearance in text: PSEN1: S169L

PubMed Link: 35936776

Variant Present in the following documents:

• Main text
• fnagi-14-926982.pdf

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Granule Cells Constitute One of the Major Neuronal Subtypes in the Molecular Layer of the Posterior Cerebellum.

Eneuro

Dey, Moushumi R MR; Reddy, Kirthan K; Yoshida, Hiroichi H; Nishiyama, Naoko N; Zemelman, Boris V BV; Nishiyama, Hiroshi H

Publication Date: 2022

Variant appearance in text: PSEN1: S169L

PubMed Link: 35584915

Variant Present in the following documents:

• ENEURO.0289-21.2022.pdf

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: Ser169Leu

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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Decrease in p3-Alcβ37 and p3-Alcβ40, products of Alcadein β generated by γ-secretase cleavages, in aged monkeys and patients with Alzheimer's disease.

Alzheimer'S & Dementia (New York, N. Y.)

Hata, Saori S; Omori, Chiori C; Kimura, Ayano A; Saito, Haruka H; Kimura, Nobuyuki N; Gupta, Veer V; Pedrini, Steve S; Hone, Eugene E; Chatterjee, Pratishtha P; Taddei, Kevin K; Kasuga, Kensaku K; Ikeuchi, Takeshi T; Waragai, Masaaki M; Nishimura, Masaki M; Hu, Anqi A; Nakaya, Tadashi T; Meijer, Laurent L; Maeda, Masahiro M; Yamamoto, Tohru T; Masters, Colin L CL; Rowe, Chris C CC; Ames, David D; Yamamoto, Kazuo K; Martins, Ralph N RN; Gandy, Sam S; Suzuki, Toshiharu T

Publication Date: 2019

Variant appearance in text: PSEN1: S169L

PubMed Link: 31754625

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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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: Ser169Leu

PubMed Link: 31391004

Variant Present in the following documents:

• 12883_2019_Article_1419.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: S169L

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Seizures as an early symptom of autosomal dominant Alzheimer's disease.

Neurobiology Of Aging

Vöglein, Jonathan J; Noachtar, Soheyl S; McDade, Eric E; Quaid, Kimberly A KA; Salloway, Stephen S; Ghetti, Bernardino B; Noble, James J; Berman, Sarah S; Chhatwal, Jasmeer J; Mori, Hiroshi H; Fox, Nick N; Allegri, Ricardo R; Masters, Colin L CL; Buckles, Virginia V; Ringman, John M JM; Rossor, Martin M; Schofield, Peter R PR; Sperling, Reisa R; Jucker, Mathias M; Laske, Christoph C; Paumier, Katrina K; Morris, John C JC; Bateman, Randall J RJ; Levin, Johannes J; Danek, Adrian A; ,

Publication Date: 2019-04

Variant appearance in text: PSEN1: S169L

PubMed Link: 30616208

Variant Present in the following documents:

• Main text

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PSEN1: S169L

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Ser169Leu

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.

Scientific Reports

Muenchhoff, Julia J; Poljak, Anne A; Thalamuthu, Anbupalam A; Gupta, Veer B VB; Chatterjee, Pratishtha P; Raftery, Mark M; Masters, Colin L CL; Morris, John C JC; Bateman, Randall J RJ; Fagan, Anne M AM; Martins, Ralph N RN; Sachdev, Perminder S PS

Publication Date: 2016-07-06

Variant appearance in text: PSEN1: S169L

PubMed Link: 27381087

Variant Present in the following documents:

• Main text
• srep29078.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Ser169Leu

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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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: Ser169Leu

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: S169L

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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