Publications:

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Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Alzheimer'S Research & Therapy

Mol, Merel O MO; van der Lee, Sven J SJ; Hulsman, Marc M; Pijnenburg, Yolande A L YAL; Scheltens, Phillip P; , ; Seelaar, Harro H; van Swieten, John C JC; Kaat, Laura Donker LD; Holstege, Henne H; van Rooij, Jeroen G J JGJ

Publication Date: 2022-06-01

Variant appearance in text: PSEN1: L262F

PubMed Link: 35650585

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1018.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: L262F

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: L262F

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: S182: L262F

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: S182: L262F

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11

View BVdb publication page

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Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics

Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW

Publication Date: 2018-04-16

Variant appearance in text: PSEN1: L262F

PubMed Link: 29661148

Variant Present in the following documents:

• Main text
• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1
• 12859_2018_Article_2151.pdf

View BVdb publication page

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Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Lee, Hyon H; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2018

Variant appearance in text: PSEN1: L262F

PubMed Link: 29445268

Variant Present in the following documents:

• Main text
• cia-13-221.pdf

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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: Leu262Phe

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: L262F

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology Of Aging

Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A

Publication Date: 2012-08

Variant appearance in text: PSEN1: L262F

PubMed Link: 22503161

Variant Present in the following documents:

• Main text

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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.

Bmc Research Notes

Thonberg, Håkan H; Fallström, Marie M; Björkström, Jenny J; Schoumans, Jacqueline J; Nennesmo, Inger I; Graff, Caroline C

Publication Date: 2011-11-01

Variant appearance in text: S182: Leu262Phe

PubMed Link: 22044463

Variant Present in the following documents:

• 1756-0500-4-476.pdf

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Presenilin/gamma-Secretase and Inflammation.

Frontiers In Aging Neuroscience

Saura, Carlos A CA

Publication Date: 2010

Variant appearance in text: PS1: L262F

PubMed Link: 20559464

Variant Present in the following documents:

• Main text
• fnagi-02-00016.pdf

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