Identification of missing variants by combining multiple analytic pipelines

by Yingxue Ren, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P. Sinnwell, Shannon K. McDonnell, Joanna M. Biernacka, Minerva M. Carrasquillo, Owen A. Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W. Asmann
Published 2018-04-01

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

by Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M. Nicholson, Matt Baker, Ging-Yuek R. Hsiung, Charles Krieger, Pheth Sengdy, Kevin B. Boylan, Dennis W. Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A. Zivkovic, David Lacomis, J. Paul Taylor, Rosa Rademakers, Ian R. A. Mackenzie
Published 2017-12-01

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

by Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk
Published 2019-10-01

Prosaposin is a regulator of progranulin levels and oligomerization

by Alexandra M. Nicholson, NiCole A. Finch, Marcio Almeida, Ralph B. Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R. Wood, Timothy M. Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M. Teslovich, Alisa K. Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A. Zahir, Julia E. Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W. Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L. Miller, Shawn Ferguson, Ronald C. Petersen, Neill Graff-Radford, John Blangero, Rosa Rademakers
Published 2016-06-01

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Published 2016-04-01