Publications:

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The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.

Brain Communications

Willumsen, Nanet N; Arber, Charles C; Lovejoy, Christopher C; Toombs, Jamie J; Alatza, Argyro A; Weston, Philip S J PSJ; Chávez-Gutiérrez, Lucia L; Hardy, John J; Zetterberg, Henrik H; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2023

Variant appearance in text: PSEN1: M146I

PubMed Link: 36687397

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• Main text
• fcac321.pdf

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Exploring the K isotope composition of Göttingen minipig brain regions, and implications for Alzheimer's disease.

Metallomics : Integrated Biometal Science

Mahan, Brandon B; Tacail, Theo T; Lewis, Jamie J; Elliott, Tim T; Habekost, Mette M; Turner, Simon S; Chung, Roger R; Moynier, Frédéric F

Publication Date: 2022-11-23

Variant appearance in text: PS1: M146I

PubMed Link: 36416864

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• Main text
• mfac090.pdf

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Application of the transgenic pig model in biomedical research: A review.

Frontiers In Cell And Developmental Biology

Wei, Jialin J; Zhang, Wen W; Li, Jie J; Jin, Ye Y; Qiu, Zhidong Z

Publication Date: 2022

Variant appearance in text: PSEN1: Met146Ile

PubMed Link: 36325365

Variant Present in the following documents:

• Main text
• fcell-10-1031812.pdf

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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: Met146Ile

PubMed Link: 36142879

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• Main text
• ijms-23-10970.pdf

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An insight into the iPSCs-derived two-dimensional culture and three-dimensional organoid models for neurodegenerative disorders.

Interface Focus

Bhargava, Anushka A; Sandoval Castellanos, Ana M AM; Shah, Sonali S; Ning, Ke K

Publication Date: 2022-10-06

Variant appearance in text: PSEN1: M146I

PubMed Link: 35992771

Variant Present in the following documents:

• Main text
• rsfs.2022.0040.pdf

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Advances in pig models of human diseases.

Animal Models And Experimental Medicine

Hou, Naipeng N; Du, Xuguang X; Wu, Sen S

Publication Date: 2022-04

Variant appearance in text: PSEN1: M146I

PubMed Link: 35343091

Variant Present in the following documents:

• Main text

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Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.

Acta Neuropathologica Communications

Chen, Hsiang-Han HH; Eteleeb, Abdallah A; Wang, Ciyang C; Fernandez, Maria Victoria MV; Budde, John P JP; Bergmann, Kristy K; Norton, Joanne J; Wang, Fengxian F; Ebl, Curtis C; Morris, John C JC; Perrin, Richard J RJ; Bateman, Randall J RJ; McDade, Eric E; Xiong, Chengjie C; Goate, Alison A; Farlow, Martin M; Chhatwal, Jasmeer J; Schofield, Peter R PR; Chui, Helena H; Harari, Oscar O; Cruchaga, Carlos C; Ibanez, Laura L; ,

Publication Date: 2022-03-04

Variant appearance in text: PSEN1: Met146Ile

PubMed Link: 35246267

Variant Present in the following documents:

• 40478_2022_Article_1328.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: M146I

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Tumour necrosis factor induces increased production of extracellular amyloid-β- and α-synuclein-containing aggregates by human Alzheimer's disease neurons.

Brain Communications

Whiten, Daniel R DR; Brownjohn, Philip W PW; Moore, Steven S; De, Suman S; Strano, Alessio A; Zuo, Yukun Y; Haneklaus, Moritz M; Klenerman, David D; Livesey, Frederick J FJ

Publication Date: 2020

Variant appearance in text: PSEN1: M146I

PubMed Link: 33543132

Variant Present in the following documents:

• Main text
• fcaa146.pdf

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: M146I

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc3.pdf

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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports

Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL

Publication Date: 2020-11-13

Variant appearance in text: PSEN1: 438G>C; Met146Ile

PubMed Link: 33188256

Variant Present in the following documents:

• Main text
• 41598_2020_Article_76794.pdf

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Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2020-11-12

Variant appearance in text: PSEN1: M146I

PubMed Link: 33180261

Variant Present in the following documents:

• Main text
• 12015_2020_Article_10068.pdf

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Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2022-02

Variant appearance in text: PSEN1: M146I

PubMed Link: 33180261

Variant Present in the following documents:

• Main text
• 12015_2020_Article_10068.pdf

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: PSEN1: M146I

PubMed Link: 32973976

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• Main text

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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: PSEN1: M146I

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

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Application of Genetically Engineered Pigs in Biomedical Research.

Genes

Hryhorowicz, Magdalena M; Lipiński, Daniel D; Hryhorowicz, Szymon S; Nowak-Terpiłowska, Agnieszka A; Ryczek, Natalia N; Zeyland, Joanna J

Publication Date: 2020-06-19

Variant appearance in text: PSEN1: M146I

PubMed Link: 32575461

Variant Present in the following documents:

• Main text

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Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.

Brain Communications

Arber, Charles C; Villegas-Llerena, Claudio C; Toombs, Jamie J; Pocock, Jennifer M JM; Ryan, Natalie S NS; Fox, Nick C NC; Zetterberg, Henrik H; Hardy, John J; Wray, Selina S

Publication Date: 2019

Variant appearance in text: PSEN1: M146I

PubMed Link: 32395715

Variant Present in the following documents:

• Main text
• fcz024.pdf

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Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation

Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY

Publication Date: 2019-12

Variant appearance in text: PSEN1: M146I

PubMed Link: 31722555

Variant Present in the following documents:

• 10.1177_0963689719886534.pdf

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Current status and future prospects of stem cell therapy in Alzheimer's disease.

Neural Regeneration Research

Zhang, Fu-Qiang FQ; Jiang, Jin-Lan JL; Zhang, Jing-Tian JT; Niu, Han H; Fu, Xue-Qi XQ; Zeng, Lin-Lin LL

Publication Date: 2020-02

Variant appearance in text: PSEN1: M146I

PubMed Link: 31552889

Variant Present in the following documents:

• NRR-15-242.pdf

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Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease

Essayan-Perez, Sofia S; Zhou, Bo B; Nabet, Amber M AM; Wernig, Marius M; Huang, Yu-Wen Alvin YA

Publication Date: 2019-10

Variant appearance in text: PSEN1: M146I

PubMed Link: 31202913

Variant Present in the following documents:

• Main text

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Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Molecular Psychiatry

Arber, Charles C; Toombs, Jamie J; Lovejoy, Christopher C; Ryan, Natalie S NS; Paterson, Ross W RW; Willumsen, Nanet N; Gkanatsiou, Eleni E; Portelius, Erik E; Blennow, Kaj K; Heslegrave, Amanda A; Schott, Jonathan M JM; Hardy, John J; Lashley, Tammaryn T; Fox, Nick C NC; Zetterberg, Henrik H; Wray, Selina S

Publication Date: 2020-11

Variant appearance in text: PSEN1: M146I

PubMed Link: 30980041

Variant Present in the following documents:

• Main text

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Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology

Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC

Publication Date: 2019-01-31

Variant appearance in text: PSEN1: M146I

PubMed Link: 30958120

Variant Present in the following documents:

• Main text
• rsob-9-180177.pdf

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Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science

Majolo, Fernanda F; Marinowic, Daniel Rodrigo DR; Machado, Denise Cantarelli DC; Da Costa, Jaderson Costa JC

Publication Date: 2019-02-06

Variant appearance in text: PS1: M146I

PubMed Link: 30728025

Variant Present in the following documents:

• Main text
• 12929_2019_Article_501.pdf

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Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer's Disease.

Cell Reports

Hung, Christy O Y COY; Livesey, Frederick J FJ

Publication Date: 2018-12-26

Variant appearance in text: PSEN1: M146I

PubMed Link: 30590039

Variant Present in the following documents:

• Main text

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Small-molecule induction of Aβ-42 peptide production in human cerebral organoids to model Alzheimer's disease associated phenotypes.

Plos One

Pavoni, Serena S; Jarray, Rafika R; Nassor, Ferid F; Guyot, Anne-Cécile AC; Cottin, Steve S; Rontard, Jessica J; Mikol, Jacqueline J; Mabondzo, Aloïse A; Deslys, Jean-Philippe JP; Yates, Frank F

Publication Date: 2018

Variant appearance in text: PSEN1: M146I

PubMed Link: 30557391

Variant Present in the following documents:

• Main text
• pone.0209150.pdf

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Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models.

Open Biology

Taoufik, Era E; Kouroupi, Georgia G; Zygogianni, Ourania O; Matsas, Rebecca R

Publication Date: 2018-09

Variant appearance in text: PSEN1: M146I

PubMed Link: 30185603

Variant Present in the following documents:

• Main text
• rsob-8-180138.pdf

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APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer's Disease Phenotypes in Human iPSC-Derived Brain Cell Types.

Neuron

Lin, Yuan-Ta YT; Seo, Jinsoo J; Gao, Fan F; Feldman, Heather M HM; Wen, Hsin-Lan HL; Penney, Jay J; Cam, Hugh P HP; Gjoneska, Elizabeta E; Raja, Waseem K WK; Cheng, Jemmie J; Rueda, Richard R; Kritskiy, Oleg O; Abdurrob, Fatema F; Peng, Zhuyu Z; Milo, Blerta B; Yu, Chung Jong CJ; Elmsaouri, Sara S; Dey, Dilip D; Ko, Tak T; Yankner, Bruce A BA; Tsai, Li-Huei LH

Publication Date: 2018-06-27

Variant appearance in text: PSEN1: M146I

PubMed Link: 29861287

Variant Present in the following documents:

• Main text

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Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms

Perleberg, Carolin C; Kind, Alexander A; Schnieke, Angelika A

Publication Date: 2018-01-22

Variant appearance in text: PSEN1: M146I

PubMed Link: 29419487

Variant Present in the following documents:

• Main text

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Stem cell models of Alzheimer's disease: progress and challenges.

Alzheimer'S Research & Therapy

Arber, Charles C; Lovejoy, Christopher C; Wray, Selina S

Publication Date: 2017-06-13

Variant appearance in text: PSEN1: M146I

PubMed Link: 28610595

Variant Present in the following documents:

• Main text
• 13195_2017_Article_268.pdf

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Modeling tau pathology in human stem cell derived neurons.

Brain Pathology (Zurich, Switzerland)

Wray, Selina S

Publication Date: 2017-07

Variant appearance in text: PSEN1: M146I

PubMed Link: 28585382

Variant Present in the following documents:

• Main text

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Induced pluripotent stem cell technology: a decade of progress.

Nature Reviews. Drug Discovery

Shi, Yanhong Y; Inoue, Haruhisa H; Wu, Joseph C JC; Yamanaka, Shinya S

Publication Date: 2017-02

Variant appearance in text: PS1: M146I

PubMed Link: 27980341

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• Main text

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3D culture models of Alzheimer's disease: a road map to a "cure-in-a-dish".

Molecular Neurodegeneration

Choi, Se Hoon SH; Kim, Young Hye YH; Quinti, Luisa L; Tanzi, Rudolph E RE; Kim, Doo Yeon DY

Publication Date: 2016-12-09

Variant appearance in text: PSEN1: M146I

PubMed Link: 27938410

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• Main text

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Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes.

Plos One

Raja, Waseem K WK; Mungenast, Alison E AE; Lin, Yuan-Ta YT; Ko, Tak T; Abdurrob, Fatema F; Seo, Jinsoo J; Tsai, Li-Huei LH

Publication Date: 2016

Variant appearance in text: PSEN1: M146I

PubMed Link: 27622770

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• Main text

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Plasma Phospholipid and Sphingolipid Alterations in Presenilin1 Mutation Carriers: A Pilot Study.

Journal Of Alzheimer'S Disease : Jad

Chatterjee, Pratishtha P; Lim, Wei L F WL; Shui, Guanghou G; Gupta, Veer B VB; James, Ian I; Fagan, Anne M AM; Xiong, Chengjie C; Sohrabi, Hamid R HR; Taddei, Kevin K; Brown, Belinda M BM; Benzinger, Tammie T; Masters, Colin C; Snowden, Stuart G SG; Wenk, Marcus R MR; Bateman, Randall J RJ; Morris, John C JC; Martins, Ralph N RN

Publication Date: 2016

Variant appearance in text: PS1: Met146Ile

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

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Alzheimer's in 3D culture: challenges and perspectives.

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology

D'Avanzo, Carla C; Aronson, Jenna J; Kim, Young Hye YH; Choi, Se Hoon SH; Tanzi, Rudolph E RE; Kim, Doo Yeon DY

Publication Date: 2015-10

Variant appearance in text: PSEN1: M146I

PubMed Link: 26252541

Variant Present in the following documents:

• Main text

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APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

Cell Reports

Moore, Steven S; Evans, Lewis D B LD; Andersson, Therese T; Portelius, Erik E; Smith, James J; Dias, Tatyana B TB; Saurat, Nathalie N; McGlade, Amelia A; Kirwan, Peter P; Blennow, Kaj K; Hardy, John J; Zetterberg, Henrik H; Livesey, Frederick J FJ

Publication Date: 2015-05-05

Variant appearance in text: PSEN1: M146I

PubMed Link: 25921538

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc4.pdf
• main.pdf

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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: Met146Ile

PubMed Link: 25217249

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: PSEN1: Met146Ile

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: M146I

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: M146I

PubMed Link: 23539189

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• Main text

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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Plos One

Wray, Selina S; Self, Matthew M; , ; , ; , ; Lewis, Patrick A PA; Taanman, Jan-Willem JW; Ryan, Natalie S NS; Mahoney, Colin J CJ; Liang, Yuying Y; Devine, Michael J MJ; Sheerin, Una-Marie UM; Houlden, Henry H; Morris, Huw R HR; Healy, Daniel D; Marti-Masso, Jose-Felix JF; Preza, Elisavet E; Barker, Suzanne S; Sutherland, Margaret M; Corriveau, Roderick A RA; D'Andrea, Michael M; Schapira, Anthony H V AH; Uitti, Ryan J RJ; Guttman, Mark M; Opala, Grzegorz G; Jasinska-Myga, Barbara B; Puschmann, Andreas A; Nilsson, Christer C; Espay, Alberto J AJ; Slawek, Jaroslaw J; Gutmann, Ludwig L; Boeve, Bradley F BF; Boylan, Kevin K; Stoessl, A Jon AJ; Ross, Owen A OA; Maragakis, Nicholas J NJ; Van Gerpen, Jay J; Gerstenhaber, Melissa M; Gwinn, Katrina K; Dawson, Ted M TM; Isacson, Ole O; Marder, Karen S KS; Clark, Lorraine N LN; Przedborski, Serge E SE; Finkbeiner, Steven S; Rothstein, Jeffrey D JD; Wszolek, Zbigniew K ZK; Rossor, Martin N MN; Hardy, John J

Publication Date: 2012

Variant appearance in text: PSEN1: M146I

PubMed Link: 22952635

Variant Present in the following documents:

• Main text
• pone.0043099.pdf

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