Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer’s disease risk

por Novikova, Gloriia, Andrews, Shea J., Renton, Alan E., Marcora, Edoardo
Publicado 2021

The complex genetic architecture of Alzheimer's disease: novel insights and future directions

por Andrews, Shea J., Renton, Alan E., Fulton-Howard, Brian, Podlesny-Drabiniok, Anna, Marcora, Edoardo, Goate, Alison M.
Publicado 2023

Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

por Adelson, Robert P., Renton, Alan E., Li, Wentian, Barzilai, Nir, Atzmon, Gil, Goate, Alison M., Davies, Peter, Freudenberg-Hua, Yun
Publicado 2019

Whole genome sequencing identifies loci specifically associated with thoracic aortic wall defects and abdominal aortic aneurysms in patients with European ancestry

por Miner, Grace H., Renton, Alan E., Taubenfeld, Ella, Tadros, Rami O., Marcora, Edoardo, Lookstein, Robert A., Faries, Peter L., Marin, Michael L.
Publicado 2020

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration

por Kaivorinne, Anna-Lotta, Bode, Michaela K., Paavola, Liisa, Tuominen, Hannu, Kallio, Mika, Renton, Alan E., Traynor, Bryan J., Moilanen, Virpi, Remes, Anne M.
Publicado 2013

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-T...

por Collins, Mahlon, Riascos, David, Kovalik, Tina, An, Jiyan, Krupa, Kelly, Krupa, Kristin, Hood, Brian L., Conrads, Thomas P., Renton, Alan E., Traynor, Bryan J., Bowser, Robert
Publicado 2012

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia

por Rytty, Riikka, Nikkinen, Juha, Paavola, Liisa, Abou Elseoud, Ahmed, Moilanen, Virpi, Visuri, Annina, Tervonen, Osmo, Renton, Alan E., Traynor, Bryan J., Kiviniemi, Vesa, Remes, Anne M.
Publicado 2013

Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease

por Butkiewicz, Mariusz, Blue, Elizabeth E, Leung, Yuk Yee, Jian, Xueqiu, Marcora, Edoardo, Renton, Alan E, Kuzma, Amanda, Wang, Li-San, Koboldt, Daniel C, Haines, Jonathan L, Bush, William S
Publicado 2018

PINK1 cleavage at position A103 by the mitochondrial protease PARL

por Deas, Emma, Plun-Favreau, Helene, Gandhi, Sonia, Desmond, Howard, Kjaer, Svend, Loh, Samantha H.Y., Renton, Alan E.M., Harvey, Robert J., Whitworth, Alexander J., Martins, L. Miguel, Abramov, Andrey Y., Wood, Nicholas W.
Publicado 2011

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

por Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J., Azzouz, Mimoun, Heath, Paul R., Kirby, Janine, Shaw, Pamela J.
Publicado 2017

Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes

por Huq, Aamira J., Fulton‐Howard, Brian, Riaz, Moeen, Laws, Simon, Sebra, Robert, Ryan, Joanne, Renton, Alan E., Goate, Alison M., Masters, Colin L., Storey, Elsdon, Shah, Raj C., Murray, Anne, McNeil, John, Winship, Ingrid, James, Paul A., Lacaze, Paul
Publicado 2021

Melatonin receptor type 1A gene linked to Alzheimer’s disease in old age

por Sulkava, Sonja, Muggalla, Pranuthi, Sulkava, Raimo, Ollila, Hanna M, Peuralinna, Terhi, Myllykangas, Liisa, Kaivola, Karri, Stone, David J, Traynor, Bryan J, Renton, Alan E, Rivera, Alberto M, Helisalmi, Seppo, Soininen, Hilkka, Polvikoski, Tuomo, Hiltunen, Mikko, Tienari, Pentti J, Huttunen, Henri J, Paunio, Tiina
Publicado 2018

Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease

por Xue, Diane, Bush, William S., Renton, Alan E., Marcora, Edoardo A., Bis, Joshua C., Kunkle, Brian W., Boerwinkle, Eric, DeStefano, Anita L., Farrer, Lindsay, Goate, Alison, Mayeux, Richard, Pericak‐Vance, Margaret, Schellenberg, Gerard, Seshadri, Sudha, Wijsman, Ellen, Haines, Jonathan L., Blue, Elizabeth E.
Publicado 2021

Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population

por Riaz, Moeen, Huq, Aamira, Ryan, Joanne, Orchard, Suzanne G, Tiller, Jane, Lockery, Jessica, Woods, Robyn L., Wolfe, Rory, Renton, Alan E., Goate, Alison M., Sebra, Robert, Schadt, Eric, Brodtmann, Amy, Shah, Raj C., Storey, Elsdon, Murray, Anne M, McNeil, John J., Lacaze, Paul
Publicado 2021

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes

por Bowles, Kathryn R., Pugh, Derian A., Liu, Yiyuan, Patel, Tulsi, Renton, Alan E., Bandres-Ciga, Sara, Gan-Or, Ziv, Heutink, Peter, Siitonen, Ari, Bertelsen, Sarah, Cherry, Jonathan D., Karch, Celeste M., Frucht, Steven J., Kopell, Brian H., Peter, Inga, Park, Y. J., Charney, Alexander, Raj, Towfique, Crary, John F., Goate, A. M.
Publicado 2022

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion()

por Fratta, Pietro, Polke, James M., Newcombe, Jia, Mizielinska, Sarah, Lashley, Tammaryn, Poulter, Mark, Beck, Jon, Preza, Elisavet, Devoy, Anny, Sidle, Katie, Howard, Robin, Malaspina, Andrea, Orrell, Richard W., Clarke, Jan, Lu, Ching-Hua, Mok, Kin, Collins, Toby, Shoaii, Maryam, Nanji, Tina, Wray, Selina, Adamson, Gary, Pittman, Alan, Renton, Alan E., Traynor, Bryan J., Sweeney, Mary G., Revesz, Tamas, Houlden, Henry, Mead, Simon, Isaacs, Adrian M., Fisher, Elizabeth M.C.
Publicado 2015

Innate immunity protein IFITM3 modulates γ-secretase in Alzheimer disease

por Hur, Ji-Yeun, Frost, Georgia R., Wu, Xianzhong, Crump, Christina, Pan, Si Jia, Wong, Eitan, Barros, Marilia, Li, Thomas, Nie, Pengju, Zhai, Yujia, Wang, Jen Chyong, TCW, Julia, Guo, Lei, McKenzie, Andrew, Ming, Chen, Zhou, Xianxiao, Wang, Minghui, Sagi, Yotam, Renton, Alan E., Esposito, Bianca T., Kim, Yong, Sadleir, Katherine R., Trinh, Ivy, Rissman, Robert A., Vassar, Robert, Zhang, Bin, Johnson, Douglas S., Masliah, Eliezer, Greengard, Paul, Goate, Alison, Li, Yue-Ming
Publicado 2020

Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America

por Takada, Leonel Tadao, Aláez-Verson, Carmen, Burgute, Bhagyashri D., Nitrini, Ricardo, Sosa, Ana Luisa, Castilhos, Raphael Machado, Chaves, Marcia Fagundes, Longoria, Erika-Mariana, Carrillo-Sánchez, Karol, Brucki, Sonia Maria Dozzi, Flores-Lagunes, Luis Leonardo, Molina, Carolina, Olivares, Marcos Jimenez, Ziegemeier, Ellen, Petranek, Jennifer, Goate, Alison M., Cruchaga, Carlos, Renton, Alan E., Fernández, Maria Victoria, Day, Gregory S., McDade, Eric, Bateman, Randall J., Karch, Celeste M., Llibre-Guerra, Jorge J.
Publicado 2022

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

por Johnson, Janel O., Pioro, Erik P., Boehringer, Ashley, Chia, Ruth, Feit, Howard, Renton, Alan E., Pliner, Hannah A., Abramzon, Yevgeniya, Marangi, Giuseppe, Winborn, Brett J., Gibbs, J Raphael, Nalls, Michael A., Morgan, Sarah, Shoai, Maryam, Hardy, John, Pittman, Alan, Orrell, Richard W., Malaspina, Andrea, Sidle, Katie C., Fratta, Pietro, Harms, Matthew B., Baloh, Robert H., Pestronk, Alan, Weihl, Conrad C., Rogaeva, Ekaterina, Zinman, Lorne, Drory, Vivian E., Borghero, Giuseppe, Mora, Gabriele, Calvo, Andrea, Rothstein, Jeffrey D., Drepper, Carsten, Sendtner, Michael, Singleton, Andrew B., Taylor, J. Paul, Cookson, Mark R., Restagno, Gabriella, Sabatelli, Mario, Bowser, Robert, Chiò, Adriano, Traynor, Bryan J.
Publicado 2014

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

por Majounie, Elisa, Renton, Alan E, Mok, Kin, Dopper, Elise GP, Waite, Adrian, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C, Abramzon, Yevgeniya, Johnson, Janel O, Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W, Mead, Simon, Sidle, Katie C, Houlden, Henry, Rohrer, Jonathan D, Morrison, Karen E, Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G, Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M, Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q, Van Deerlin, Vivianna M, Schellenberg, Gerard D, Nalls, Michael A, Drory, Vivian E, Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J, Heutink, Peter, Morris, Huw R, Pickering-Brown, Stuart, Traynor, Bryan J
Publicado 2012