Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Pro284Ser

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

View BVdb publication page

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Pro284Ser

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.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: P284S

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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Cerebral amyloid angiopathy-related inflammation: a case report presenting with a rare variant in SORL1 gene.

Bmc Neurology

Du, Yanjiao Y; Liu, Chao C; Ma, Congmin C; Xu, Xiaohui X; Zhou, Xufeng X; Zhou, Haitao H; Huang, Chao C

Publication Date: 2019-05-15

Variant appearance in text: PSEN1: P284S

PubMed Link: 31092209

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1326.pdf

View BVdb publication page

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Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget

Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI

Publication Date: 2017-10-10

Variant appearance in text: PSEN1: P284S; rs63750324

PubMed Link: 29137240

Variant Present in the following documents:

• oncotarget-08-82006-s001.pdf

View BVdb publication page

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Anti-Aβ Autoantibodies in Amyloid Related Imaging Abnormalities (ARIA): Candidate Biomarker for Immunotherapy in Alzheimer's Disease and Cerebral Amyloid Angiopathy.

Frontiers In Neurology

DiFrancesco, Jacopo C JC; Longoni, Martina M; Piazza, Fabrizio F

Publication Date: 2015

Variant appearance in text: PSEN1: P284S

PubMed Link: 26441825

Variant Present in the following documents:

• Main text
• fneur-06-00207.pdf

View BVdb publication page

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