A peptide inhibitor of Tau-SH3 interactions ameliorates amyloid-β toxicity

por Rush, Travis, Roth, Jonathan R., Thompson, Samantha J., Aldaher, Adam R., Cochran, J. Nicholas, Roberson, Erik D.
Publicado 2019

Reduced PIN1 gene expression in neocortical and limbic brain regions in female Alzheimer’s patients correlates with cognitive and neuropathological phenotypes

por de Ávila, Camila, Suazo, Crystal, Nolz, Jennifer, Cochran, J. Nicholas, Wang, Qi, Velazquez, Ramon, Dammer, Eric, Readhead, Benjamin, Mastroeni, Diego
Publicado 2023

Alzheimer’s disease risk gene BIN1 induces Tau-dependent network hyperexcitability

por Voskobiynyk, Yuliya, Roth, Jonathan R, Cochran, J Nicholas, Rush, Travis, Carullo, Nancy VN, Mesina, Jacob S, Waqas, Mohammad, Vollmer, Rachael M, Day, Jeremy J, McMahon, Lori L, Roberson, Erik D
Publicado 2020

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

por Voskobiynyk, Yuliya, Battu, Gopal, Felker, Stephanie A., Cochran, J. Nicholas, Newton, Megan P., Lambert, Laura J., Kesterson, Robert A., Myers, Richard M., Cooper, Gregory M., Roberson, Erik D., Barsh, Gregory S.
Publicado 2021

PEA15 loss of function and defective cerebral development in the domestic cat

por Graff, Emily C., Cochran, J. Nicholas, Kaelin, Christopher B., Day, Kenneth, Gray-Edwards, Heather L., Watanabe, Rie, Koehler, Jey W., Falgoust, Rebecca A., Prokop, Jeremy W., Myers, Richard M., Cox, Nancy R., Barsh, Gregory S., Martin, Douglas R.
Publicado 2020

Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer’s disease-specific cis-regulatory elements

por Anderson, Ashlyn G., Rogers, Brianne B., Loupe, Jacob M., Rodriguez-Nunez, Ivan, Roberts, Sydney C., White, Lauren M., Brazell, J. Nicholas, Bunney, William E., Bunney, Blynn G., Watson, Stanley J., Cochran, J. Nicholas, Myers, Richard M., Rizzardi, Lindsay F.
Publicado 2023

Contributions of rare and common variation to early-onset and atypical dementia risk

por Wright, Carter A., Taylor, Jared W., Cochran, Meagan, Lawlor, James M.J., Moyers, Belle A., Amaral, Michelle D., Bonnstetter, Zachary T., Carter, Princess, Solomon, Veronika, Myers, Richard M., Love, Marissa Natelson, Geldmacher, David S., Cooper, Sara J., Roberson, Erik D., Cochran, J. Nicholas
Publicado 2023

Contributions of rare and common variation to early-onset and atypical dementia risk

por Wright, Carter A., Taylor, Jared W., Cochran, Meagan, Lawlor, James M.J., Moyers, Belle A., Amaral, Michelle D., Bonnstetter, Zachary T., Carter, Princess, Solomon, Veronika, Myers, Richard M., Love, Marissa Natelson, Geldmacher, David S., Cooper, Sara J., Roberson, Erik D., Cochran, J. Nicholas
Publicado 2023

MAPT expression is mediated by long-range interactions with cis-regulatory elements

por Rogers, Brianne B., Anderson, Ashlyn G., Lauzon, Shelby N., Davis, M. Natalie, Hauser, Rebecca M., Roberts, Sydney C., Rodriguez-Nunez, Ivan, Trausch-Lowther, Katie, Barinaga, Erin A., Taylor, Jared W., Mackiewicz, Mark, Roberts, Brian S., Cooper, Sara J., Rizzardi, Lindsay F., Myers, Richard M., Cochran, J. Nicholas
Publicado 2023

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome

por Snyder, Allison, Ryan, Veronica H, Hawrot, James, Lawton, Sydney, Ramos, Daniel M, Qi, Y Andy, Johnson, Kory, Reed, Xylena, Johnson, Nicholas L, Kollasch, Aaron W, Duffy, Megan, VandeVrede, Lawren, Cochran, J Nicholas, Miller, Bruce L, Toro, Camilo, Bielekova, Bibiana, Yokoyama, Jennifer S, Marks, Debora S, Kwan, Justin Y, Cookson, Mark R, Ward, Michael E
Publicado 2023

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

por Cochran, J. Nicholas, McKinley, Emily C., Cochran, Meagan, Amaral, Michelle D., Moyers, Bryan A., Lasseigne, Brittany N., Gray, David E., Lawlor, James M.J., Prokop, Jeremy W., Geier, Ethan G., Holt, James M., Thompson, Michelle L., Newberry, J. Scott, Yokoyama, Jennifer S., Worthey, Elizabeth A., Geldmacher, David S., Love, Marissa Natelson, Cooper, Gregory M., Myers, Richard M., Roberson, Erik D.
Publicado 2019

Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease?

por Mantyh, William G., Cochran, J. Nicholas, Taylor, Jared W., Broce, Iris J., Geier, Ethan G., Bonham, Luke W., Anderson, Ashlyn G., Sirkis, Daniel W., Joie, Renaud La, Iaccarino, Leonardo, Chaudhary, Kiran, Edwards, Lauren, Strom, Amelia, Grant, Harli, Allen, Isabel E., Miller, Zachary A., Gorno‐Tempini, Marilu L., Kramer, Joel H., Miller, Bruce L., Desikan, Rahul S., Rabinovici, Gil D., Yokoyama, Jennifer S.
Publicado 2023

Genomic diagnosis for children with intellectual disability and/or developmental delay

por Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Publicado 2017

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

por Acosta-Uribe, Juliana, Aguillón, David, Cochran, J. Nicholas, Giraldo, Margarita, Madrigal, Lucía, Killingsworth, Bradley W., Singhal, Rijul, Labib, Sarah, Alzate, Diana, Velilla, Lina, Moreno, Sonia, García, Gloria P., Saldarriaga, Amanda, Piedrahita, Francisco, Hincapié, Liliana, López, Hugo E., Perumal, Nithesh, Morelo, Leonilde, Vallejo, Dionis, Solano, Juan Marcos, Reiman, Eric M., Surace, Ezequiel I., Itzcovich, Tatiana, Allegri, Ricardo, Sánchez-Valle, Raquel, Villegas-Lanau, Andrés, White, Charles L., Matallana, Diana, Myers, Richard M., Browning, Sharon R., Lopera, Francisco, Kosik, Kenneth S.
Publicado 2022

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

por Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Publicado 2018

The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science

por Ibanez, Agustin, Yokoyama, Jennifer S., Possin, Katherine L., Matallana, Diana, Lopera, Francisco, Nitrini, Ricardo, Takada, Leonel T., Custodio, Nilton, Sosa Ortiz, Ana Luisa, Avila-Funes, José Alberto, Behrens, Maria Isabel, Slachevsky, Andrea, Myers, Richard M., Cochran, J. Nicholas, Brusco, Luis Ignacio, Bruno, Martin A., Brucki, Sonia M. D., Pina-Escudero, Stefanie Danielle, Okada de Oliveira, Maira, Donnelly Kehoe, Patricio, Garcia, Adolfo M., Cardona, Juan Felipe, Santamaria-Garcia, Hernando, Moguilner, Sebastian, Duran-Aniotz, Claudia, Tagliazucchi, Enzo, Maito, Marcelo, Longoria Ibarrola, Erika Mariana, Pintado-Caipa, Maritza, Godoy, Maria Eugenia, Bakman, Vera, Javandel, Shireen, Kosik, Kenneth S., Valcour, Victor, Miller, Bruce L.
Publicado 2021

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

por Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Publicado 2022