Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS von Ash, Peter E.A., Bieniek, Kevin F., Gendron, Tania F., Caulfield, Thomas, Lin, Wen-Lang, DeJesus-Hernandez, Mariely, van Blitterswijk, Marka M., Jansen-West, Karen, Paul, Joseph W., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard

Volltext

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS von Su, Zhaoming, Zhang, Yongjie, Gendron, Tania F., Bauer, Peter O., Chew, Jeannie, Yang, Wang-Yong, Fostvedt, Erik, Jansen-West, Karen, Belzil, Veronique V., Desaro, Pamela, Johnston, Amelia, Overstreet, Karen, Oh, Seok-Yoon, Todd, Peter K., Berry, James D., Cudkowicz, Merit E., Boeve, Bradley F., Dickson, Dennis, Floeter, Mary Kay, Traynor, Bryan J., Morelli, Claudia, Ratti, Antonia, Silani, Vincenzo, Rademakers, Rosa, Brown, Robert H., Rothstein, Jeffrey D., Boylan, Kevin B., Petrucelli, Leonard, Disney, Matthew D.

Volltext

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD von Chou, Ching-Chieh, Zhang, Yi, Umoh, Mfon E., Vaughan, Spencer W., Lorenzini, Ileana, Liu, Feilin, Sayegh, Melissa, Donlin-Asp, Paul G., Chen, Yu Han, Duong, Duc M., Seyfried, Nicholas T., Powers, Maureen A., Kukar, Thomas, Hales, Chadwick M., Gearing, Marla, Cairns, Nigel J., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa, Zhang, Yong-Jie, Petrucelli, Leonard, Sattler, Rita, Zarnescu, Daniela C., Glass, Jonathan D., Rossoll, Wilfried

Volltext

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank von Bieniek, Kevin F., Ross, Owen A., Cormier, Kerry A., Walton, Ronald L., Soto-Ortolaza, Alexandra, Johnston, Amelia E., DeSaro, Pamela, Boylan, Kevin B., Graff-Radford, Neill R., Wszolek, Zbigniew K., Rademakers, Rosa, Boeve, Bradley F., McKee, Ann C., Dickson, Dennis W.

Volltext

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS von DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Boeve, Bradley F., Boxer, Adam L., Baker, Matt, Rutherford, Nicola J., Nicholson, Alexandra M., Finch, NiCole A., Flynn, Heather, Adamson, Jennifer, Kouri, Naomi, Wojtas, Aleksandra, Sengdy, Pheth, Hsiung, Ging-Yuek R., Karydas, Anna, Seeley, William W., Josephs, Keith A., Coppola, Giovanni, Geschwind, Daniel H., Wszolek, Zbigniew K., Feldman, Howard, Knopman, David S., Petersen, Ronald C., Miller, Bruce L., Dickson, Dennis W., Boylan, Kevin B., Graff-Radford, Neill R., Rademakers, Rosa

Volltext

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

Volltext

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS von 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

Volltext

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study von van Blitterswijk, Marka, PhD, DeJesus-Hernandez, Mariely, BS, Niemantsverdriet, Ellis, BS, Murray, Melissa E, PhD, Heckman, Michael G, MS, Diehl, Nancy N, BS, Brown, Patricia H, MS, Baker, Matthew C, BSc, Finch, NiCole A, MS, Bauer, Peter O, PhD, Serrano, Geidy, PhD, Beach, Thomas G, Prof, Josephs, Keith A, Prof, Knopman, David S, Prof, Petersen, Ronald C, Prof, Boeve, Bradley F, Prof, Graff-Radford, Neill R, Prof, Boylan, Kevin B, MD, Petrucelli, Leonard, Prof, Dickson, Dennis W, Prof, Rademakers, Rosa, Dr

Volltext

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

Volltext

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice von Peters, Owen M., Cabrera, Gabriela Toro, Tran, Helene, Gendron, Tania F., McKeon, Jeanne E., Metterville, Jake, Weiss, Alexandra, Wightman, Nicholas, Salameh, Johnny, Kim, Juhyun, Sun, Huaming, Boylan, Kevin B., Dickson, Dennis, Kennedy, Zachary, Lin, Ziqiang, Zhang, Yong-Jie, Daughrity, Lillian, Jung, Chris, Gao, Fen-Biao, Sapp, Peter C., Horvitz, H. Robert, Bosco, Daryl A., Brown, Solange P., de Jong, Pieter, Petrucelli, Leonard, Mueller, Christian, Brown, Robert H.

Volltext

Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72‐associated amyotrophic lateral sclerosis von Gendron, Tania F., Daughrity, Lillian M., Heckman, Michael G., Diehl, Nancy N., Wuu, Joanne, Miller, Timothy M., Pastor, Pau, Trojanowski, John Q., Grossman, Murray, Berry, James D., Hu, William T., Ratti, Antonia, Benatar, Michael, Silani, Vincenzo, Glass, Jonathan D., Floeter, Mary Kay, Jeromin, Andreas, Boylan, Kevin B., Petrucelli, Leonard

Volltext

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers von DeJesus-Hernandez, Mariely, Finch, NiCole A., Wang, Xue, Gendron, Tania F., Bieniek, Kevin F., Heckman, Michael G., Vasilevich, Aliaksei, Murray, Melissa E., Rousseau, Linda, Weesner, Rachael, Lucido, Anthony, Parsons, Meeia, Chew, Jeannie, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Graff-Radford, Neill R., de Boer, Jan, Asmann, Yan W., Petrucelli, Leonard, Boylan, Kevin B., Dickson, Dennis W., van Blitterswijk, Marka, Rademakers, Rosa

Volltext

Jump from Pre-mutation to Pathologic Expansion in C9orf72 von Xi, Zhengrui, van Blitterswijk, Marka, Zhang, Ming, McGoldrick, Philip, McLean, Jesse R., Yunusova, Yana, Knock, Erin, Moreno, Danielle, Sato, Christine, McKeever, Paul M., Schneider, Raphael, Keith, Julia, Petrescu, Nicolae, Fraser, Paul, Tartaglia, Maria Carmela, Baker, Matthew C., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Mackenzie, Ian R., Rademakers, Rosa, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina

Volltext

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance von Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry

Volltext

Clinical and neuropathological features of ALS/FTD with TIA1 mutations von Hirsch-Reinshagen, Veronica, Pottier, Cyril, Nicholson, Alexandra M, Baker, Matt, Hsiung, Ging-Yuek R, Krieger, Charles, Sengdy, Pheth, Boylan, Kevin B, Dickson, Dennis W, Mesulam, Marsel, Weintraub, Sandra, Bigio, Eileen, Zinman, Lorne, Keith, Julia, Rogaeva, Ekaterina, Zivkovic, Sasha A, Lacomis, David, Taylor, J Paul, Rademakers, Rosa, Mackenzie, Ian R A

Volltext

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits von Chew, Jeannie, Gendron, Tania F, Prudencio, Mercedes, Sasaguri, Hiroki, Zhang, Yong-Jie, Castanedes-Casey, Monica, Lee, Chris W, Jansen-West, Karen, Kurti, Aishe, Murray, Melissa E, Bieniek, Kevin F, Bauer, Peter O, Whitelaw, Ena C, Rousseau, Linda, Stankowski, Jeannette N, Stetler, Caroline, Daughrity, Lillian M, Perkerson, Emilie A, Desaro, Pamela, Johnston, Amelia, Overstreet, Karen, Edbauer, Dieter, Rademakers, Rosa, Boylan, Kevin B, Dickson, Dennis W, Fryer, John D, Petrucelli, Leonard

Volltext

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS von Su, Zhaoming, Zhang, Yongjie, Gendron, Tania F, Bauer, Peter O, Chew, Jeannie, Yang, Wang-Yong, Fostvedt, Erik, Jansen-West, Karen, Belzil, Veronique V, Desaro, Pamela, Johnston, Amelia, Overstreet, Karen, Oh, Seok-Yoon, Todd, Peter K, Berry, James D, Cudkowicz, Merit E, Boeve, Bradley F, Dickson, Dennis, Floeter, Mary Kay, Traynor, Bryan J, Morelli, Claudia, Ratti, Antonia, Silani, Vincenzo, Rademakers, Rosa, Brown, Robert H, Rothstein, Jeffrey D, Boylan, Kevin B, Petrucelli, Leonard, Disney, Matthew D

Volltext

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease von Pottier, Cyril, Bieniek, Kevin F., Finch, NiCole, van de Vorst, Maartje, Baker, Matt, Perkersen, Ralph, Brown, Patricia, Ravenscroft, Thomas, van Blitterswijk, Marka, Nicholson, Alexandra M., DeTure, Michael, Knopman, David S., Josephs, Keith A., Parisi, Joseph E., Petersen, Ronald C., Boylan, Kevin B., Boeve, Bradley F., Graff-Radford, Neill R., Veltman, Joris A., Gilissen, Christian, Murray, Melissa E., Dickson, Dennis W., Rademakers, Rosa

Volltext

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins von Zhang, Yong-Jie, Gendron, Tania F, Grima, Jonathan C, Sasaguri, Hiroki, Jansen-West, Karen, Xu, Ya-Fei, Katzman, Rebecca B, Gass, Jennifer, Murray, Melissa E, Shinohara, Mitsuru, Lin, Wen-Lang, Garrett, Aliesha, Stankowski, Jeannette N, Daughrity, Lillian, Tong, Jimei, Perkerson, Emilie A, Yue, Mei, Chew, Jeannie, Castanedes-Casey, Monica, Kurti, Aishe, Wang, Zizhao S, Liesinger, Amanda M, Baker, Jeremy D, Jiang, Jie, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W, Rademakers, Rosa, Boylan, Kevin B, Bu, Guojun, Link, Christopher D, Dickey, Chad A, Rothstein, Jeffrey D, Dickson, Dennis W, Fryer, John D, Petrucelli, Leonard

Volltext

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS von 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

Volltext