Publications:

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: Tyr389His

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea.

International Journal Of Molecular Sciences

Shim, Kyu Hwan KH; Kang, Sangjoon S; An, Seong Soo A SSA; Kang, Min Ju MJ

Publication Date: 2022-12-19

Variant appearance in text: PSEN1: Tyr389His

PubMed Link: 36555832

Variant Present in the following documents:

• Main text
• ijms-23-16192.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: Tyr389His

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report.

Frontiers In Aging Neuroscience

Wan, Ke K; Ma, Zhen-Juan ZJ; Zhou, Xia X; Zhang, Yi-Mei YM; Yu, Xian-Feng XF; You, Meng-Zhe MZ; Huang, Chao-Juan CJ; Zhang, Wei W; Sun, Zhong-Wu ZW

Publication Date: 2021

Variant appearance in text: PSEN1: Tyr389His

PubMed Link: 34366829

Variant Present in the following documents:

• Main text
• fnagi-13-710075.pdf

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PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports

Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS

Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Tyr389His

PubMed Link: 32103039

Variant Present in the following documents:

• Main text
• 41598_2020_Article_59829.pdf

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