Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

by Belzil, Veronique V., Bauer, Peter O., Prudencio, Mercedes, Gendron, Tania F., Stetler, Caroline T., Yan, Irene K., Pregent, Luc, Daughrity, Lillian, Baker, Matthew C., Rademakers, Rosa, Boylan, Kevin, Patel, Tushar C., Dickson, Dennis W., Petrucelli, Leonard
Published 2013

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

by Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
Published 2013

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

by Zhang, Yong-Jie, Jansen-West, Karen, Xu, Ya-Fei, Gendron, Tania F., Bieniek, Kevin F., Lin, Wen-Lang, Sasaguri, Hiroki, Caulfield, Thomas, Hubbard, Jaime, Daughrity, Lillian, Chew, Jeannie, Belzil, Veronique V., Prudencio, Mercedes, Stankowski, Jeannette N., Castanedes-Casey, Monica, Whitelaw, Ena, Ash, Peter E. A., DeTure, Michael, Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
Published 2014

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

by Gendron, Tania F., van Blitterswijk, Marka, Bieniek, Kevin F., Daughrity, Lillian M., Jiang, Jie, Rush, Beth K., Pedraza, Otto, Lucas, John A., Murray, Melissa E., Desaro, Pamela, Robertson, Amelia, Overstreet, Karen, Thomas, Colleen S., Crook, Julia E., Castanedes-Casey, Monica, Rousseau, Linda, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Graff-Radford, Neill R., Rademakers, Rosa, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W., Dickson, Dennis W., Petrucelli, Leonard, Boylan, Kevin B.
Published 2015

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

by Prudencio, Mercedes, Belzil, Veronique V., Batra, Ranjan, Ross, Christian A., Gendron, Tania F., Pregent, Luc J., Murray, Melissa E., Overstreet, Karen K., Piazza-Johnston, Amelia E., Desaro, Pamela, Bieniek, Kevin F., DeTure, Michael, Lee, Wing C., Biendarra, Sherri M., Davis, Mary D., Baker, Matthew C., Perkerson, Ralph B., van Blitterswijk, Marka, Stetler, Caroline T., Rademakers, Rosa, Link, Christopher D., Dickson, Dennis W., Boylan, Kevin B., Li, Hu, Petrucelli, Leonard
Published 2015

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

by Boeve, Bradley F., Boylan, Kevin B., Graff-Radford, Neill R., DeJesus-Hernandez, Mariely, Knopman, David S., Pedraza, Otto, Vemuri, Prashanthi, Jones, David, Lowe, Val, Murray, Melissa E., Dickson, Dennis W., Josephs, Keith A., Rush, Beth K., Machulda, Mary M., Fields, Julie A., Ferman, Tanis J., Baker, Matthew, Rutherford, Nicola J., Adamson, Jennifer, Wszolek, Zbigniew K., Adeli, Anahita, Savica, Rodolfo, Boot, Brendon, Kuntz, Karen M., Gavrilova, Ralitza, Reeves, Andrew, Whitwell, Jennifer, Kantarci, Kejal, Jack, Clifford R., Parisi, Joseph E., Lucas, John A., Petersen, Ronald C., Rademakers, Rosa
Published 2012

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

by Kim, Hong Joo, Kim, Nam Chul, Wang, Yong-Dong, Scarborough, Emily A., Moore, Jennifer, Diaz, Zamia, MacLea, Kyle S., Freibaum, Brian, Li, Songqing, Molliex, Amandine, Kanagaraj, Anderson P., Carter, Robert, Boylan, Kevin B., Wojtas, Aleksandra M., Rademakers, Rosa, Pinkus, Jack L., Greenberg, Steven A., Trojanowski, John Q., Traynor, Bryan J., Smith, Bradley N., Topp, Simon, Gkazi, Athina-Soragia, Miller, Jack, Shaw, Christopher E., Kottlors, Michael, Kirschner, Janbernd, Pestronk, Alan, Li, Yun R., Ford, Alice Flynn, Gitler, Aaron D., Benatar, Michael, King, Oliver D., Kimonis, Virginia E., Ross, Eric D., Weihl, Conrad C., Shorter, James, Taylor, J. Paul
Published 2013

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

by Rayaprolu, Sruti, Mullen, Bianca, Baker, Matt, Lynch, Timothy, Finger, Elizabeth, Seeley, William W, Hatanpaa, Kimmo J, Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H, Lippa, Carol, Josephs, Keith A, Knopman, David S, White, Charles L, Caselli, Richard, Mackenzie, Ian R, Miller, Bruce L, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Younkin, Steven G, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Uitti, Ryan J, Meschia, James F, Boylan, Kevin B, Boeve, Bradley F, Graff-Radford, Neill R, Wszolek, Zbigniew K, Dickson, Dennis W, Rademakers, Rosa, Ross, Owen A
Published 2013

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

by van Blitterswijk, Marka, Mullen, Bianca, Wojtas, Aleksandra, Heckman, Michael G, Diehl, Nancy N, Baker, Matthew C, DeJesus-Hernandez, Mariely, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White, Charles L, Neumann, Manuela, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa
Published 2014

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

by Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Published 2012