Publications:

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Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Littau, Jessica Lisa JL; Velilla, Lina L; Hase, Yoshiki Y; Villalba-Moreno, Nelson David ND; Hagel, Christian C; Drexler, Dagmar D; Osorio Restrepo, Santiago S; Villegas, Andres A; Lopera, Francisco F; Vargas, Sergio S; Glatzel, Markus M; Krasemann, Susanne S; Quiroz, Yakeel T YT; Arboleda-Velasquez, Joseph F JF; Kalaria, Rajesh R; Sepulveda-Falla, Diego D

Publication Date: 2022-11

Variant appearance in text: PSEN1: Ile143Met

PubMed Link: 35695802

Variant Present in the following documents:

• Main text
• BPA-32-e13097.pdf

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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: Ile143Met

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.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: I143M

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Ile143Met

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Journal Of The Neurological Sciences

Akinyemi, Rufus O RO; Owolabi, Mayowa O MO; Oyeniyi, Tolulope T; Ovbiagele, Bruce B; Arnett, Donna K DK; Tiwari, Hemant K HK; Walker, Richard R; Ogunniyi, Adesola A; Kalaria, Raj N RN; ,

Publication Date: 2016-07-15

Variant appearance in text: PSEN1: Ile143Met

PubMed Link: 27288810

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: Ile143Met

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Genetics of Alzheimer disease.

Journal Of Geriatric Psychiatry And Neurology

Bekris, Lynn M LM; Yu, Chang-En CE; Bird, Thomas D TD; Tsuang, Debby W DW

Publication Date: 2010-12

Variant appearance in text: PSEN1: I143M

PubMed Link: 21045163

Variant Present in the following documents:

• Main text

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