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: Leu424Arg

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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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: Leu424Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD.

Frontiers In Psychiatry

Stoychev, Kaloyan R KR; Stoimenova-Popova, Maya M; Chumpalova, Petranka P; Ilieva, Lilia L; Swamad, Mohamed M; Kamburova-Martinova, Zornitsa Z

Publication Date: 2019

Variant appearance in text: PSEN1: Leu424Arg

PubMed Link: 31920735

Variant Present in the following documents:

• Main text
• fpsyt-10-00857.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: L424R

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: Leu424Arg

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN1: L424R

PubMed Link: 21559247

Variant Present in the following documents:

• Main text
• IJAD2011-296374.pdf

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: L424R

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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Causes versus effects: the increasing complexities of Alzheimer's disease pathogenesis.

Expert Review Of Neurotherapeutics

Mondragón-Rodríguez, Siddhartha S; Basurto-Islas, Gustavo G; Lee, Hyoung-gon HG; Perry, George G; Zhu, Xiongwei X; Castellani, Rudy J RJ; Smith, Mark A MA

Publication Date: 2010-05

Variant appearance in text: PSEN1: L424R

PubMed Link: 20420489

Variant Present in the following documents:

• Main text

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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: L424R

PubMed Link: 16882738

Variant Present in the following documents:

• Main text

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