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: Pro49Leu

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.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: Pro49Leu

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Medicine

Perrone, Federica F; Cacace, Rita R; van der Zee, Julie J; Van Broeckhoven, Christine C

Publication Date: 2021-04-14

Variant appearance in text: PSEN1: P49L

PubMed Link: 33853652

Variant Present in the following documents:

• Main text
• 13073_2021_Article_878.pdf

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: PSEN1: P49L

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

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