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: Met84Val

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Biomedicines

Bruno, Francesco F; Laganà, Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R

Publication Date: 2022-09-15

Variant appearance in text: PSEN1: M84V

PubMed Link: 36140389

Variant Present in the following documents:

• Main text
• biomedicines-10-02288.pdf

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A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences

Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2021-10-08

Variant appearance in text: PSEN1: M84V

PubMed Link: 34679393

Variant Present in the following documents:

• Main text
• brainsci-11-01328.pdf

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 250A>G; M84V

PubMed Link: 34389718

Variant Present in the following documents:

• Main text
• 41525_2021_Article_235.pdf

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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: PSEN1: M84V

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

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Deep Feature Selection and Causal Analysis of Alzheimer's Disease.

Frontiers In Neuroscience

Liu, Yuanyuan Y; Li, Zhouxuan Z; Ge, Qiyang Q; Lin, Nan N; Xiong, Momiao M

Publication Date: 2019

Variant appearance in text: PSEN1: M84V

PubMed Link: 31802999

Variant Present in the following documents:

• fnins-13-01198.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: M84V

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: M84V

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy

Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM

Publication Date: 2018-07-18

Variant appearance in text: PSEN1: M84V

PubMed Link: 30021643

Variant Present in the following documents:

• Main text

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