Publications:

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Differential effects of familial Alzheimer's disease-causing mutations on amyloid precursor protein (APP) trafficking, proteolytic conversion, and synaptogenic activity.

Acta Neuropathologica Communications

Schilling, Sandra S; Pradhan, Ajay A; Heesch, Amelie A; Helbig, Andrea A; Blennow, Kaj K; Koch, Christian C; Bertgen, Lea L; Koo, Edward H EH; Brinkmalm, Gunnar G; Zetterberg, Henrik H; Kins, Stefan S; Eggert, Simone S

Publication Date: 2023-06-01

Variant appearance in text: APP: A692G

PubMed Link: 37259128

Variant Present in the following documents:

• Main text
• 40478_2023_Article_1577.pdf

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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: 2075C>G; Ala692Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Structural Determinant of β-Amyloid Formation: From Transmembrane Protein Dimerization to β-Amyloid Aggregates.

Biomedicines

Papadopoulos, Nicolas N; Suelves, Nuria N; Perrin, Florian F; Vadukul, Devkee M DM; Vrancx, Céline C; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P

Publication Date: 2022-10-29

Variant appearance in text: APP: A692G

PubMed Link: 36359274

Variant Present in the following documents:

• Main text
• biomedicines-10-02753.pdf

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Main features of hereditary cerebral amyloid angiopathies: A systematic review.

Cerebral Circulation - Cognition And Behavior

Biffi, Alessandro A

Publication Date: 2022

Variant appearance in text: APP: A692G

PubMed Link: 36324420

Variant Present in the following documents:

• Main text
• main.pdf

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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: A692G

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.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: APP: Ala692Gly

PubMed Link: 36140389

Variant Present in the following documents:

• Main text
• biomedicines-10-02288.pdf

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Genetic Variants Associated With Subjective Cognitive Decline in Patients With Migraine.

Frontiers In Aging Neuroscience

Yeh, Po-Kuan PK; Liang, Chih-Sung CS; Tsai, Chia-Lin CL; Lin, Yu-Kai YK; Lin, Guan-Yu GY; Tsai, Chia-Kuang CK; Tsai, Ming-Chen MC; Liu, Yi Y; Tai, Yueh-Ming YM; Hung, Kuo-Sheng KS; Yang, Fu-Chi FC

Publication Date: 2022

Variant appearance in text: APP: A692G

PubMed Link: 35783123

Variant Present in the following documents:

• Main text

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Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports

Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D

Publication Date: 2022-02

Variant appearance in text: APP: A692G

PubMed Link: 35107767

Variant Present in the following documents:

• Main text
• 12015_2021_Article_10254.pdf

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Decoding Conformational Imprint of Convoluted Molecular Interactions Between Prenylflavonoids and Aggregated Amyloid-Beta42 Peptide Causing Alzheimer's Disease.

Frontiers In Chemistry

Srinivasan, E E; Chandrasekhar, G G; Chandrasekar, P P; Anbarasu, K K; Vickram, A S AS; Tayubi, Iftikhar Aslam IA; Rajasekaran, R R; Karunakaran, Rohini R

Publication Date: 2021

Variant appearance in text: APP: A692G

PubMed Link: 34988060

Variant Present in the following documents:

• Main text
• fchem-09-753146.pdf

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Bmj (Clinical Research Ed.)

Schon, Katherine R KR; Horvath, Rita R; Wei, Wei W; Calabrese, Claudia C; Tucci, Arianna A; Ibañez, Kristina K; Ratnaike, Thiloka T; Pitceathly, Robert D S RDS; Bugiardini, Enrico E; Quinlivan, Rosaline R; Hanna, Michael G MG; Clement, Emma E; Ashton, Emma E; Sayer, John A JA; Brennan, Paul P; Josifova, Dragana D; Izatt, Louise L; Fratter, Carl C; Nesbitt, Victoria V; Barrett, Timothy T; McMullen, Dominic J DJ; Smith, Audrey A; Deshpande, Charulata C; Smithson, Sarah F SF; Festenstein, Richard R; Canham, Natalie N; Caulfield, Mark M; Houlden, Henry H; Rahman, Shamima S; Chinnery, Patrick F PF; ,

Publication Date: 2021-11-03

Variant appearance in text: APP: 2075C>G; Ala692Gly

PubMed Link: 34732400

Variant Present in the following documents:

• Main text
• schk066288.ww2.xlsx, sheet 1

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Cerebral Amyloid Angiopathy in a Mouse Model of Alzheimer's Disease Associates with Upregulated Angiopoietin and Downregulated Hypoxia-Inducible Factor.

Journal Of Alzheimer'S Disease : Jad

Skaaraas, Gry H E Syverstad GHES; Melbye, Christoffer C; Puchades, Maja A MA; Leung, Doreen Siu Yi DSY; Jacobsen, Øyvind Ø; Rao, Shreyas B SB; Ottersen, Ole Petter OP; Leergaard, Trygve B TB; Torp, Reidun R

Publication Date: 2021

Variant appearance in text: APP: A692G

PubMed Link: 34459401

Variant Present in the following documents:

• jad-83-jad210571.pdf

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: APP: Ala692Gly

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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The Diagnostic Potential of Amyloidogenic Proteins.

International Journal Of Molecular Sciences

Jin, Yiyun Y; Vadukul, Devkee Mahesh DM; Gialama, Dimitra D; Ge, Ying Y; Thrush, Rebecca R; White, Joe Thomas JT; Aprile, Francesco Antonio FA

Publication Date: 2021-04-16

Variant appearance in text: APP: A692G

PubMed Link: 33923609

Variant Present in the following documents:

• Main text

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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: A692G

PubMed Link: 33370284

Variant Present in the following documents:

• 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: A692G

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences

Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A

Publication Date: 2020-09-18

Variant appearance in text: APP: A692G

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.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: A692G

PubMed Link: 32325882

Variant Present in the following documents:

• Main text
• jpm-10-00026.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: A692G

PubMed Link: 32183293

Variant Present in the following documents:

• Main text
• ijms-21-01985.pdf

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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: A692G

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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The Amyloid-Tau-Neuroinflammation Axis in the Context of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences

Cisternas, Pablo P; Taylor, Xavier X; Lasagna-Reeves, Cristian A CA

Publication Date: 2019-12-14

Variant appearance in text: APP: A692G

PubMed Link: 31847365

Variant Present in the following documents:

• Main text
• ijms-20-06319.pdf

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Cerebral amyloid angiopathy and Alzheimer disease - one peptide, two pathways.

Nature Reviews. Neurology

Greenberg, Steven M SM; Bacskai, Brian J BJ; Hernandez-Guillamon, Mar M; Pruzin, Jeremy J; Sperling, Reisa R; van Veluw, Susanne J SJ

Publication Date: 2020-01

Variant appearance in text: APP: Ala692Gly

PubMed Link: 31827267

Variant Present in the following documents:

• 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: A692G

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

View BVdb publication page

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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: A692G

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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Capturing Aβ42 aggregation in the cell.

The Journal Of Biological Chemistry

Bemporad, Francesco F; Cecchi, Cristina C; Chiti, Fabrizio F

Publication Date: 2019-02-01

Variant appearance in text: APP: A692G

PubMed Link: 30710006

Variant Present in the following documents:

• Main text

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Cerebrovascular disorders associated with genetic lesions.

Cellular And Molecular Life Sciences : Cmls

Karschnia, Philipp P; Nishimura, Sayoko S; Louvi, Angeliki A

Publication Date: 2019-01

Variant appearance in text: APP: A692G

PubMed Link: 30327838

Variant Present in the following documents:

• 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: A692G

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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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: A692G

PubMed Link: 29056900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of mismatched and bulged nucleotides on SNP-preferential RNase H cleavage of RNA-antisense gapmer heteroduplexes.

Scientific Reports

Magner, Dorota D; Biala, Ewa E; Lisowiec-Wachnicka, Jolanta J; Kierzek, Ryszard R

Publication Date: 2017-10-02

Variant appearance in text: APP: A692G

PubMed Link: 28970564

Variant Present in the following documents:

• Main text
• 41598_2017_Article_12844.pdf

View BVdb publication page

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Analyzing Nicotinamide Adenine Dinucleotide Phosphate Oxidase Activation in Aging and Vascular Amyloid Pathology.

Frontiers In Immunology

Radbruch, Helena H; Mothes, Ronja R; Bremer, Daniel D; Seifert, Stefanie S; Köhler, Ralf R; Pohlan, Julian J; Ostendorf, Lennard L; Günther, Robert R; Leben, Ruth R; Stenzel, Werner W; Niesner, Raluca Aura RA; Hauser, Anja E AE

Publication Date: 2017

Variant appearance in text: APP: A692G

PubMed Link: 28824611

Variant Present in the following documents:

• fimmu-08-00844.pdf

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: APP: 2075C>G; A692G

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: APP: 2075C>G; Ala692Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: APP: 2075C>G; Ala692Gly

PubMed Link: 28350801

Variant Present in the following documents:

• Main text

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The role and therapeutic targeting of α-, β- and γ-secretase in Alzheimer's disease.

Future Science Oa

MacLeod, Ruth R; Hillert, Ellin-Kristina EK; Cameron, Ryan T RT; Baillie, George S GS

Publication Date: 2015-11

Variant appearance in text: APP: A692G

PubMed Link: 28031886

Variant Present in the following documents:

• Main text

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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: A692G

PubMed Link: 28003277

Variant Present in the following documents:

• Main text

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs63750671

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging

Giri, Mohan M; Zhang, Man M; Lü, Yang Y

Publication Date: 2016

Variant appearance in text: APP: A692G

PubMed Link: 27274215

Variant Present in the following documents:

• Main text
• cia-11-665.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: A692G

PubMed Link: 27135718

Variant Present in the following documents:

• 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: A692G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A Tandem Oligonucleotide Approach for SNP-Selective RNA Degradation Using Modified Antisense Oligonucleotides.

Plos One

Magner, Dorota D; Biala, Ewa E; Lisowiec-Wachnicka, Jolanta J; Kierzek, Elzbieta E; Kierzek, Ryszard R

Publication Date: 2015

Variant appearance in text: APP: A692G; rs63750671

PubMed Link: 26544037

Variant Present in the following documents:

• Main text
• pone.0142139.pdf

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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: A692G

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

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A review of β-amyloid neuroimaging in Alzheimer's disease.

Frontiers In Neuroscience

Adlard, Paul A PA; Tran, Bob A BA; Finkelstein, David I DI; Desmond, Patricia M PM; Johnston, Leigh A LA; Bush, Ashley I AI; Egan, Gary F GF

Publication Date: 2014

Variant appearance in text: APP: A692G

PubMed Link: 25400539

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: APP: Ala692Gly

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A692G

PubMed Link: 24955352

Variant Present in the following documents:

• Main text

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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: Ala692Gly

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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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: A692G

PubMed Link: 24691405

Variant Present in the following documents:

• Main text

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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: APP: A692G

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.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: A692G

PubMed Link: 23515184

Variant Present in the following documents:

• Main text

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Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad

Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC

Publication Date: 2013

Variant appearance in text: APP: A692G

PubMed Link: 23380992

Variant Present in the following documents:

• Main text

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Neurologic and motor dysfunctions in APP transgenic mice.

Reviews In The Neurosciences

Lalonde, Robert R; Fukuchi, Ken-Ichiro K; Strazielle, Catherine C

Publication Date: 2012

Variant appearance in text: APP: A692G

PubMed Link: 23089603

Variant Present in the following documents:

• Main text

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The genetics and neuropathology of Alzheimer's disease.

Acta Neuropathologica

Schellenberg, Gerard D GD; Montine, Thomas J TJ

Publication Date: 2012-09

Variant appearance in text: APP: Ala692Gly

PubMed Link: 22618995

Variant Present in the following documents:

• 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: A692G

PubMed Link: 22494386

Variant Present in the following documents:

• Main text

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