Publications:

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: Ser169Pro

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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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: S169P

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: S169P

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Sánchez-Valle, Raquel R; Heslegrave, Amanda A; Foiani, Martha S MS; Bosch, Beatriz B; Antonell, Anna A; Balasa, Mircea M; Lladó, Albert A; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2018-11-03

Variant appearance in text: PSEN1: S169P

PubMed Link: 30390718

Variant Present in the following documents:

• Main text
• 13195_2018_Article_439.pdf

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C-terminal fragments of the amyloid precursor protein in cerebrospinal fluid as potential biomarkers for Alzheimer disease.

Scientific Reports

García-Ayllón, María-Salud MS; Lopez-Font, Inmaculada I; Boix, Claudia P CP; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Zetterberg, Henrik H; Blennow, Kaj K; Sáez-Valero, Javier J

Publication Date: 2017-05-30

Variant appearance in text: PSEN1: S169P

PubMed Link: 28559572

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2841.pdf

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Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Carmona-Iragui, María M; Balasa, Mircea M; Benejam, Bessy B; Alcolea, Daniel D; Fernández, Susana S; Videla, Laura L; Sala, Isabel I; Sánchez-Saudinós, María Belén MB; Morenas-Rodriguez, Estrella E; Ribosa-Nogué, Roser R; Illán-Gala, Ignacio I; Gonzalez-Ortiz, Sofía S; Clarimón, Jordi J; Schmitt, Frederick F; Powell, David K DK; Bosch, Beatriz B; Lladó, Albert A; Rafii, Michael S MS; Head, Elizabeth E; Molinuevo, José Luis JL; Blesa, Rafael R; Videla, Sebastián S; Lleó, Alberto A; Sánchez-Valle, Raquel R; Fortea, Juan J

Publication Date: 2017-11

Variant appearance in text: PSEN1: S169P

PubMed Link: 28463681

Variant Present in the following documents:

• Main text

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An analysis of disease-gene relationship from Medline abstracts by DigSee.

Scientific Reports

Kim, Jeongkyun J; Kim, Jung-Jae JJ; Lee, Hyunju H

Publication Date: 2017-01-05

Variant appearance in text: PS1: Ser169Pro

PubMed Link: 28054646

Variant Present in the following documents:

• srep40154-s14.xls, sheet 2

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Ser169Pro

PubMed Link: 27799753

Variant Present in the following documents:

• Main text

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Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

Molecular Neurodegeneration

Sogorb-Esteve, Aitana A; García-Ayllón, María-Salud MS; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Sáez-Valero, Javier J

Publication Date: 2016-09-29

Variant appearance in text: PSEN1: S169P

PubMed Link: 27686161

Variant Present in the following documents:

• Main text
• 13024_2016_Article_131.pdf

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Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.

Bmc Bioinformatics

Ravikumar, Komandur Elayavilli KE; Wagholikar, Kavishwar B KB; Li, Dingcheng D; Kocher, Jean-Pierre JP; Liu, Hongfang H

Publication Date: 2015-06-06

Variant appearance in text: PSEN1: Ser169Pro

PubMed Link: 26047637

Variant Present in the following documents:

• Main text
• 12859_2015_Article_609.pdf

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Ser169Pro

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: S169P

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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