Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APP: 2143G>A; Val715Met

PubMed Link: 36823319

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• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Frontiers In Aging Neuroscience

Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L

Publication Date: 2022

Variant appearance in text: APP: V715M

PubMed Link: 36313020

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• Main text
• fnagi-14-1013295.pdf

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: APP: V715M

PubMed Link: 35928996

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• Main text
• fnagi-14-903269.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: V715M

PubMed Link: 34948396

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• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: V715M

PubMed Link: 34948396

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• Main text
• ijms-22-13600.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: APP: 2143G>A; V715M

PubMed Link: 34389718

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• Main text
• 41525_2021_Article_235.pdf

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Analyzing Olfactory Neuron Precursors Non-Invasively Isolated through NADH FLIM as a Potential Tool to Study Oxidative Stress in Alzheimer's Disease.

International Journal Of Molecular Sciences

Gómez-Virgilio, Laura L; Luarte, Alejandro A; Ponce, Daniela P DP; Bruna, Bárbara A BA; Behrens, María I MI

Publication Date: 2021-06-12

Variant appearance in text: APP: V715M

PubMed Link: 34204595

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• Main text
• ijms-22-06311.pdf

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The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Plos One

Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP

Publication Date: 2020

Variant appearance in text: APP: V715M

PubMed Link: 33370284

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• Main text

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Comprehensive Review on Alzheimer's Disease: Causes and Treatment.

Molecules (Basel, Switzerland)

Breijyeh, Zeinab Z; Karaman, Rafik R

Publication Date: 2020-12-08

Variant appearance in text: APP: V715M

PubMed Link: 33302541

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• Main text
• molecules-25-05789.pdf

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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: APP: 2143G>A; Val715Met

PubMed Link: 32767553

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• Main text
• MGG3-8-e1443.pdf

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New Insights into the Molecular Bases of Familial Alzheimer's Disease.

Journal Of Personalized Medicine

D'Argenio, Valeria V; Sarnataro, Daniela D

Publication Date: 2020-04-19

Variant appearance in text: APP: V715M

PubMed Link: 32325882

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Pathological manifestation of the induced pluripotent stem cell-derived cortical neurons from an early-onset Alzheimer's disease patient carrying a presenilin-1 mutation (S170F).

Cell Proliferation

Li, Ling L; Kim, Hee Jin HJ; Roh, Jee Hoon JH; Kim, Minchul M; Koh, Wonyoung W; Kim, Younghoon Y; Heo, Hyohoon H; Chung, Jaehoon J; Nakanishi, Mahito M; Yoon, Taeyoung T; Hong, Chang Pyo CP; Seo, Sang Won SW; Na, Duk L DL; Song, Jihwan J

Publication Date: 2020-04

Variant appearance in text: APP: V715M

PubMed Link: 32216003

Variant Present in the following documents:

• CPR-53-e12798.pdf

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Potential Role of Venular Amyloid in Alzheimer's Disease Pathogenesis.

International Journal Of Molecular Sciences

Morrone, Christopher D CD; Bishay, Jossana J; McLaurin, JoAnne J

Publication Date: 2020-03-14

Variant appearance in text: APP: V715M

PubMed Link: 32183293

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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling

Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J

Publication Date: 2020-06-01

Variant appearance in text: APP: V715M

PubMed Link: 32050773

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: APP: V715M

PubMed Link: 31937364

Variant Present in the following documents:

• Main text
• 13195_2019_Article_572.pdf

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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: APP: Val715Met

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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The First Generation of iPSC Line from a Korean Alzheimer's Disease Patient Carrying APP-V715M Mutation Exhibits a Distinct Mitochondrial Dysfunction.

Experimental Neurobiology

Li, Ling L; Roh, Jee Hoon JH; Kim, Hee Jin HJ; Park, Hyun Jung HJ; Kim, Minchul M; Koh, Wonyoung W; Heo, Hyohoon H; Chang, Jong Wook JW; Nakanishi, Mahito M; Yoon, Taeyoung T; Na, Duk L DL; Song, Jihwan J

Publication Date: 2019-06

Variant appearance in text: APP: 2143G>A; V715M

PubMed Link: 31308793

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• Main text

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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: APP: V715M

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: V715M

PubMed Link: 31011484

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• Main text
• ad-10-2-383.pdf

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The vexing complexity of the amyloidogenic pathway.

Protein Science : A Publication Of The Protein Society

Castro, Manuel A MA; Hadziselimovic, Arina A; Sanders, Charles R CR

Publication Date: 2019-07

Variant appearance in text: APP: V715M

PubMed Link: 30897251

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• Main text

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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews

Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV

Publication Date: 2019-01-01

Variant appearance in text: APP: V715M

PubMed Link: 30280653

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• Main text

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Are N- and C-terminally truncated Aβ species key pathological triggers in Alzheimer's disease?

The Journal Of Biological Chemistry

Dunys, Julie J; Valverde, Audrey A; Checler, Frédéric F

Publication Date: 2018-10-05

Variant appearance in text: APP: V715M

PubMed Link: 30143530

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• Main text

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The genes associated with early-onset Alzheimer's disease.

Oncotarget

Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y

Publication Date: 2018-03-13

Variant appearance in text: APP: V715M

PubMed Link: 29599933

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• Main text
• oncotarget-09-15132.pdf

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Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience

Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y

Publication Date: 2017

Variant appearance in text: APP: V715M

PubMed Link: 29056900

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• Main text
• fnmol-10-00319.pdf

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A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging

An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: APP: V715M

PubMed Link: 28008242

Variant Present in the following documents:

• Main text
• cia-11-1817.pdf

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Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.

Cold Spring Harbor Perspectives In Medicine

Tcw, Julia J; Goate, Alison M AM

Publication Date: 2017-06-01

Variant appearance in text: APP: V715M

PubMed Link: 28003277

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• Main text

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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: APP: Val715Met

PubMed Link: 27799753

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• Main text

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Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Cell Discovery

Xu, Ting-Hai TH; Yan, Yan Y; Kang, Yanyong Y; Jiang, Yi Y; Melcher, Karsten K; Xu, H Eric HE

Publication Date: 2016

Variant appearance in text: APP: V715M

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

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Genomics of Alzheimer Disease: A Review.

Jama Neurology

Rosenberg, Roger N RN; Lambracht-Washington, Doris D; Yu, Gang G; Xia, Weiming W

Publication Date: 2016-07-01

Variant appearance in text: APP: V715M

PubMed Link: 27135718

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• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: AD1: V715M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry

Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I

Publication Date: 2015

Variant appearance in text: APP: V715M

PubMed Link: 26282939

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• Main text

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Clinical genetics of Alzheimer's disease.

Biomed Research International

Zou, Zhangyu Z; Liu, Changyun C; Che, Chunhui C; Huang, Huapin H

Publication Date: 2014

Variant appearance in text: APP: V715M

PubMed Link: 24955352

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• Main text

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Focusing the amyloid cascade hypothesis on N-truncated Abeta peptides as drug targets against Alzheimer's disease.

Acta Neuropathologica

Bayer, Thomas A TA; Wirths, Oliver O

Publication Date: 2014

Variant appearance in text: APP: Val715Met

PubMed Link: 24803226

Variant Present in the following documents:

• 401_2014_Article_1287.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: APP: Val715Met

PubMed Link: 24729694

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• Main text

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Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.

Molecular Neurodegeneration

Guzmán, Erika Avendaño EA; Bouter, Yvonne Y; Richard, Bernhard C BC; Lannfelt, Lars L; Ingelsson, Martin M; Paetau, Anders A; Verkkoniemi-Ahola, Auli A; Wirths, Oliver O; Bayer, Thomas A TA

Publication Date: 2014-04-02

Variant appearance in text: APP: V715M

PubMed Link: 24694184

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• Main text

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BACE1 (β-secretase) inhibitors for the treatment of Alzheimer's disease.

Chemical Society Reviews

Ghosh, Arun K AK; Osswald, Heather L HL

Publication Date: 2014-10-07

Variant appearance in text: APP: V715M

PubMed Link: 24691405

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• Main text

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Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity

Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V

Publication Date: 2014

Variant appearance in text: APP: V715M

PubMed Link: 24669286

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• Main text
• OMCL2014-375968.pdf

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Comparable dimerization found in wildtype and familial Alzheimer's disease amyloid precursor protein mutants.

American Journal Of Neurodegenerative Disease

So, Pauline Pl PP; Khodr, Christina E CE; Chen, Ci-Di CD; Abraham, Carmela R CR

Publication Date: 2013

Variant appearance in text: APP: V715M

PubMed Link: 23515184

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• Main text

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Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Weggen, Sascha S; Beher, Dirk D

Publication Date: 2012-03-30

Variant appearance in text: APP: V715M

PubMed Link: 22494386

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Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis.

International Journal Of Alzheimer'S Disease

Modarresi, Farzaneh F; Faghihi, Mohammad Ali MA; Patel, Nikunj S NS; Sahagan, Barbara G BG; Wahlestedt, Claes C; Lopez-Toledano, Miguel A MA

Publication Date: 2011

Variant appearance in text: APP: V715M

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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Cerebral amyloid angiopathy: a systematic review.

Journal Of Clinical Neurology (Seoul, Korea)

Biffi, Alessandro A; Greenberg, Steven M SM

Publication Date: 2011-03

Variant appearance in text: APP: V715M

PubMed Link: 21519520

Variant Present in the following documents:

• jcn-7-1.pdf

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Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif.

The Journal Of Biological Chemistry

Munter, Lisa-Marie LM; Botev, Anne A; Richter, Luise L; Hildebrand, Peter W PW; Althoff, Veit V; Weise, Christoph C; Kaden, Daniela D; Multhaup, Gerd G

Publication Date: 2010-07-09

Variant appearance in text: APP: V715M

PubMed Link: 20452985

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Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.

International Journal Of Molecular Sciences

Kumar-Singh, Samir S

Publication Date: 2009-04-23

Variant appearance in text: APP: V715M

PubMed Link: 19468344

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Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.

International Journal Of Molecular Sciences

Kumar-Singh, Samir S

Publication Date: 2009-04-23

Variant appearance in text: APP: V715M

PubMed Link: 19468344

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Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

Journal Of Korean Medical Science

Park, Hyun-Kyung HK; Na, Duk Lyul DL; Lee, Jae-Hong JH; Kim, Jong-Won JW; Ki, Chang-Seok CS

Publication Date: 2008-04

Variant appearance in text: APP: V715M

PubMed Link: 18437002

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• Main text
• jkms-23-213.pdf

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Alzheimer disease models and human neuropathology: similarities and differences.

Acta Neuropathologica

Duyckaerts, Charles C; Potier, Marie-Claude MC; Delatour, Benoît B

Publication Date: 2008-01

Variant appearance in text: APP: V715M

PubMed Link: 18038275

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