Publications:

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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: Ser230Asn

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Frontiers In Neurology

You, Chunlin C; Zeng, Weike W; Deng, Lingna L; Lei, Zhihao Z; Gao, Xinyi X; Zhang, Victor Wei VW; Wang, Yidong Y

Publication Date: 2020

Variant appearance in text: PSEN1: S230N

PubMed Link: 32431660

Variant Present in the following documents:

• fneur-11-00319.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: S230N

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: S230N

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.

Neuroscience Letters

Ringman, John M JM; Casado, Maria M; Van Berlo, Victoria V; Pa, Judy J; Joseph-Mathurin, Nelly N; Fagan, Anne M AM; Benzinger, Tammie T; Bateman, Randall J RJ; Morris, John C JC

Publication Date: 2017-09-14

Variant appearance in text: PSEN1: S230N

PubMed Link: 28764909

Variant Present in the following documents:

• Main text

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Ser230Asn

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.pdf

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