Publications:

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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: rs63750569

PubMed Link: 36314207

Variant Present in the following documents:

• Main text
• jad-90-jad220655.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: G206S

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Genetic landscape of early-onset dementia in Hungary.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Csaban, Dora D; Illes, Anett A; Renata, Toth-Bencsik TB; Balicza, Peter P; Pentelenyi, Klara K; Molnar, Viktor V; Gezsi, Andras A; Grosz, Zoltan Z; Gal, Aniko A; Kovacs, Tibor T; Klivenyi, Peter P; Molnar, Maria Judit MJ

Publication Date: 2022-09

Variant appearance in text: PSEN1: G206S; rs63750569

PubMed Link: 35752680

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6168.pdf

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Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.

Frontiers In Aging Neuroscience

Qin, Qi Q; Fu, Liping L; Wang, Ruimin R; Lyu, Jihui J; Ma, Huixuan H; Zhan, Minmin M; Zhou, Aihong A; Wang, Fen F; Zuo, Xiumei X; Wei, Cuibai C

Publication Date: 2021

Variant appearance in text: PSEN1: G206S

PubMed Link: 34603009

Variant Present in the following documents:

• Main text
• fnagi-13-732159.pdf

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Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease

Pimenova, Anna A AA; Goate, Alison M AM

Publication Date: 2020-05

Variant appearance in text: PSEN1: G206S

PubMed Link: 32032730

Variant Present in the following documents:

• Main text

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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: G206S

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: Gly206Ser

PubMed Link: 31557888

Variant Present in the following documents:

• Main text

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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.

Aging And Disease

Li, Yu-Sheng YS; Yang, Zhi-Hua ZH; Zhang, Yao Y; Yang, Jing J; Shang, Dan-Dan DD; Zhang, Shu-Yu SY; Wu, Jun J; Ji, Yan Y; Zhao, Lu L; Shi, Chang-He CH; Xu, Yu-Ming YM

Publication Date: 2019-08

Variant appearance in text: PSEN1: G206S

PubMed Link: 31440394

Variant Present in the following documents:

• Main text
• ad-10-4-908.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: G206S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging

Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H

Publication Date: 2018-02

Variant appearance in text: PSEN1: Gly206Ser

PubMed Link: 29175279

Variant Present in the following documents:

• Main text

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A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging

An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: G206S

PubMed Link: 28008242

Variant Present in the following documents:

• Main text
• cia-11-1817.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: Gly206Ser

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T

Publication Date: 2016-01-27

Variant appearance in text: PS1: G206S

PubMed Link: 26818522

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: Gly206Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

Journal Of Korean Medical Science

Park, Hyun-Kyung HK; Na, Duk Lyul DL; Lee, Jae-Hong JH; Kim, Jong-Won JW; Ki, Chang-Seok CS

Publication Date: 2008-04

Variant appearance in text: PSEN1: G206S

PubMed Link: 18437002

Variant Present in the following documents:

• Main text
• jkms-23-213.pdf

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Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5).

Journal Of Medical Genetics

Larner, A J AJ; Doran, M M

Publication Date: 2006-08

Variant appearance in text: PSEN1: G206S

PubMed Link: 16882738

Variant Present in the following documents:

• Main text

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