Publications:

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Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Jama Neurology

Cho, Bernard P H BPH; Harshfield, Eric L EL; Al-Thani, Maha M; Tozer, Daniel J DJ; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2022-10-27

Variant appearance in text: PS1: 824C>T

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

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Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Alzheimer'S Research & Therapy

Takada, Leonel Tadao LT; Aláez-Verson, Carmen C; Burgute, Bhagyashri D BD; Nitrini, Ricardo R; Sosa, Ana Luisa AL; Castilhos, Raphael Machado RM; Chaves, Marcia Fagundes MF; Longoria, Erika-Mariana EM; Carrillo-Sánchez, Karol K; Brucki, Sonia Maria Dozzi SMD; Flores-Lagunes, Luis Leonardo LL; Molina, Carolina C; Olivares, Marcos Jimenez MJ; Ziegemeier, Ellen E; Petranek, Jennifer J; Goate, Alison M AM; Cruchaga, Carlos C; Renton, Alan E AE; Fernández, Maria Victoria MV; Day, Gregory S GS; McDade, Eric E; Bateman, Randall J RJ; Karch, Celeste M CM; Llibre-Guerra, Jorge J JJ; ,

Publication Date: 2022-08-05

Variant appearance in text: PSEN1: A275V

PubMed Link: 35932032

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1052.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: A275V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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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: A275V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.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: A275V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Ala275Val

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.pdf

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