Publications:

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Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences

Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ

Publication Date: 2023-04-18

Variant appearance in text: APP: A500T

PubMed Link: 37108607

Variant Present in the following documents:

• ijms-24-07446.pdf

View BVdb publication page

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Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.

Frontiers In Neurology

Tábuas-Pereira, Miguel M; Santana, Isabel I; Gibbons, Elizabeth E; Paquette, Kimberly K; Almeida, Maria Rosário MR; Baldeiras, Inês I; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022

Variant appearance in text: APP: Ala500Thr

PubMed Link: 35873773

Variant Present in the following documents:

• Main text
• fneur-13-886379.pdf

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: APP: 1498G>A; E500K

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: APP: 1498G>A; rs201547994

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: APP: A500T

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

View BVdb publication page

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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling

Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J

Publication Date: 2020-06-01

Variant appearance in text: APP: A500T

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: A500T

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

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Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

European Journal Of Human Genetics : Ejhg

Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J

Publication Date: 2015-10

Variant appearance in text: APP: A500T; rs201547994

PubMed Link: 25604855

Variant Present in the following documents:

• Main text

View BVdb publication page

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