Advances in sequencing technologies for amyotrophic lateral sclerosis research di Evan Udine, Angita Jain, Marka van Blitterswijk

Testo

TMEM106B haplotypes have distinct gene expression patterns in aged brain di Yingxue Ren, Marka van Blitterswijk, Mariet Allen, Minerva M. Carrasquillo, Joseph S. Reddy, Xue Wang, Thomas G. Beach, Dennis W. Dickson, Nilüfer Ertekin-Taner, Yan W. Asmann, Rosa Rademakers

Testo

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. di Marka van Blitterswijk, Eric T Wang, Brad A Friedman, Pamela J Keagle, Patrick Lowe, Ashley Lyn Leclerc, Leonard H van den Berg, David E Housman, Jan H Veldink, John E Landers

Testo

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations di Nobutaka Sakae, Shanu F. Roemer, Kevin F. Bieniek, Melissa E. Murray, Matthew C. Baker, Koji Kasanuki, Neill R. Graff‐Radford, Leonard Petrucelli, Marka Van Blitterswijk, Rosa Rademakers, Dennis W. Dickson

Testo

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion di Evan Udine, NiCole A. Finch, Mariely DeJesus-Hernandez, Jazmyne L. Jackson, Matthew C. Baker, Siva Arumugam Saravanaperumal, Eric Wieben, Mark T.W. Ebbert, Jaimin Shah, Leonard Petrucelli, Rosa Rademakers, Björn Oskarsson, Marka van Blitterswijk

Testo

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers di Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk

Testo

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

Testo

Prosaposin is a regulator of progranulin levels and oligomerization di 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

Testo

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia di 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

Testo