Publications:

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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: Gly417Ala

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

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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: Gly417Ala

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Amyloid-beta peptide and tau protein crosstalk in Alzheimer's disease.

Neural Regeneration Research

Roda, Alejandro R AR; Serra-Mir, Gabriel G; Montoliu-Gaya, Laia L; Tiessler, Lidia L; Villegas, Sandra S

Publication Date: 2022-08

Variant appearance in text: PSEN1: Gly417Ala

PubMed Link: 35017413

Variant Present in the following documents:

• NRR-17-1666.pdf

View BVdb publication page

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Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.

Genes

Rabaneda-Bueno, Rubén R; Mena-Montes, Beatriz B; Torres-Castro, Sara S; Torres-Carrillo, Norma N; Torres-Carrillo, Nora Magdalena NM

Publication Date: 2021-12-08

Variant appearance in text: PSEN1: G417A

PubMed Link: 34946908

Variant Present in the following documents:

• Main text
• genes-12-01959.pdf

View BVdb publication page

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Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.

Genes

Rabaneda-Bueno, Rubén R; Mena-Montes, Beatriz B; Torres-Castro, Sara S; Torres-Carrillo, Norma N; Torres-Carrillo, Nora Magdalena NM

Publication Date: 2021-12-08

Variant appearance in text: PSEN1: G417A

PubMed Link: 34946908

Variant Present in the following documents:

• Main text
• genes-12-01959.pdf

View BVdb publication page

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Gly417Ala

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: 1250G>C; Gly417Ala

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: Gly417Ala

PubMed Link: 31391004

Variant Present in the following documents:

• 12883_2019_Article_1419.pdf

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: PSEN1: 1250G>C

PubMed Link: 31182772

Variant Present in the following documents:

• Main text
• 41598_2019_44848_MOESM1_ESM.pdf
• 41598_2019_Article_44848.pdf

View BVdb publication page

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: PSEN1: Gly417Ala

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514.pdf

View BVdb publication page

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PSEN1: Gly417Ala

PubMed Link: 30510423

Variant Present in the following documents:

• ndt-14-3015.pdf

View BVdb publication page

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