Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Luc Pregent"'
Autor:
Mark T. W. Ebbert, Tanner D. Jensen, Karen Jansen-West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Veronique Belzil, Luc Pregent, Minerva M. Carrasquillo, Dirk Keene, Eric Larson, Paul Crane, Yan W. Asmann, Nilufer Ertekin-Taner, Steven G. Younkin, Owen A. Ross, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
Abstract Background The human genome contains “dark” gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that m
Externí odkaz:
https://doaj.org/article/e1a9587d951a4a8790ff8810d11b99d5
Autor:
Neill R. Graff-Radford, Sergio Sebastian Pineda, Ronald C. Petersen, Julio Mantero, Bjorn Oskarsson, Mariely DeJesus-Hernandez, Jaimin S. Shah, Veronique V. Belzil, Melissa E. Murray, Erica Engelberg-Cook, Michael DeTure, Brent Eugene Fitzwalter, Rosa Rademakers, Bradley F. Boeve, Hyeseung Lee, Luc Pregent, Dennis W. Dickson, Mahammad E Gardashli, Shahin Mohammadi, David S. Knopman, Manolis Kellis, Cyril Pottier, Marka van Blitterswijk, Keith A. Josephs, Myriam Heiman
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two devastating and fatal neurodegenerative conditions. While distinct, they share many clinical, genetic, and pathological characteristics1, and both show selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a3a52304aac71720fc15a8376c6619d
https://doi.org/10.1101/2021.07.07.451374
https://doi.org/10.1101/2021.07.07.451374
Autor:
Kevin B. Boylan, Mark T. W. Ebbert, Pamela Desaro, Rebecca B. Katzman, Veronique V. Belzil, Hu Li, Luc Pregent, Carla Palmucci, Rebecca J Lank, Dennis W. Dickson, Christian A. Ross, Tamas Ordog, Cheng Zhang, Edroaldo Lummertz da Rocha, Karen Jansen-West, Amelia Robertson, Yuping Song, Ana M. Caputo, Rosa Rademakers
Publikováno v:
Acta neuropathologica
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementar
Autor:
Jonathon P. Sens, Owen A. Ross, Joseph S. Reddy, John D. Fryer, Perry G. Ridge, Steven G. Younkin, Eric C. Larson, Rosa Rademakers, John S. K. Kauwe, Paul K. Crane, Yan W. Asmann, Minerva M. Carrasquillo, Tanner D. Jensen, Leonard Petrucelli, Veronique V. Belzil, Mark T. W. Ebbert, Karen Jansen-West, Dirk C. Keene, Luc Pregent, Nilufer Ertekin-Taner
BackgroundThe human genome contains ‘dark’ gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that may be rele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93dc449498e84c3344ef022768ed7735
https://doi.org/10.1101/514497
https://doi.org/10.1101/514497
Autor:
Joseph S. Reddy, Paul K. Crane, Steven G. Younkin, Nilufer Ertekin-Taner, Minerva M. Carrasquillo, John D. Fryer, Eric C. Larson, Luc Pregent, Jonathon P. Sens, Veronique V. Belzil, Dirk C. Keene, Karen Jansen-West, Tanner D. Jensen, Perry G. Ridge, Rosa Rademakers, John S. K. Kauwe, Leonard Petrucelli, Mark T. W. Ebbert, Yan W. Asmann, Owen A. Ross
Publikováno v:
Genome biology
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
Genome Biology
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
Genome Biology
Background The human genome contains “dark” gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that may be rel
Autor:
Timothy M. Miller, Jon B. Toledo, Jennifer Farren, Jeffrey D. Rothstein, John Q. Trojanowski, Luc Pregent, Michael G. Heckman, Alessandro Prelle, Aliesha D. O’Raw, Beth K. Rush, Bryan J. Traynor, Laura Braun, Matthew D. Disney, Yari Carlomagno, Veronique V. Belzil, Antonia Ratti, Lilia J. Tabassian, Monica Castanedes-Casey, Dennis W. Dickson, Michael Tierney, John C. van Swieten, Adam L. Boxer, Jeannie Chew, Lauren Elman, Murray Grossman, Emilie A. Perkerson, Mercedes Prudencio, Ana M. Caputo, Frank Rigo, Lillian M. Daughrity, Casey Cook, Otto Pedraza, James D. Berry, David Lacomis, Christina Fournier, Jennifer Jockel-Balsarotti, Leonard Petrucelli, Giovanna Antognetti, Marka van Blitterswijk, Lindsey R. Hayes, Robert H. Brown, Joanne Wuu, Kevin B. Boylan, Jimei Tong, Edythe Wiggs, Amelia Robertson, Linda Rousseau, Karen Jansen-West, Mary Kay Floeter, Yuping Song, John D. Fryer, Tania D Gendron, Robert Bowser, Barbara Poletti, Jennifer D. McBride, Shafeeq Ladha, Federica Solca, Alexander McCampbell, Leo McCluskey, Bruce L. Miller, Weixing Yang, Rosa Rademakers, Virginia Phillips, Chris W. Lee, Mei Yue, Denitza Raitcheva, Carla Palmucci, Jonathan D. Glass, Nancy N. Diehl, Vincenzo Silani, Jeannette N. Stankowski, Pamela Desaro, Cinzia Tiloca, Claudia Morelli, Abhishek Datta, William T. Hu, Yong Jie Zhang, Michael Benatar, Christine Ambrose
Publikováno v:
Science Translational Medicine, 9(383):eaai7866. American Association for the Advancement of Science
Science translational medicine, vol 9, iss 383
Science translational medicine
Science translational medicine, vol 9, iss 383
Science translational medicine
There is no effective treatment for amyotrophic lateral sclerosis (ALS), a devastating motor neuron disease. However, discovery of a G(4)C(2) repeat expansion in the C9ORF72 gene as the most common genetic cause of ALS has opened up new avenues for t
Autor:
Luc Pregent, Karen Jansen-West, Yanan Feng, Aliesha Garrett, Casey Cook, Neill R. Graff-Radford, Nicholas J. Kramer, Joseph W. Paul, Tania F. Gendron, Ronald C. Petersen, Jeannie Chew, Mercedes Prudencio, Marka van Blitterswijk, Nancy M. Bonini, Kevin B. Boylan, David S. Knopman, Fen-Biao Gao, Rosa Rademakers, Stanley N. Cohen, Bradley F. Boeve, Christopher D. Link, Lilia J. Tabassian, Lindsey D. Goodman, Sandra Almeida, Yari Carlomagno, Dennis W. Dickson, Ning Deng, Veronique V. Belzil, Leonard Petrucelli, Yong Jie Zhang, Joseph E. Parisi, Tzu Hao Cheng, Keith A. Josephs, Julien Couthouis, Lillian M. Daughrity, Aaron D. Gitler
Publikováno v:
Science
Targeting three defects with one strategy The neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia are most commonly caused by a mutation in the C9orf72 gene. The mutation is an expanded hexanucleotide repeat in a nonc
Autor:
Christian A. Ross, Mary D. Davis, Sherri M. Biendarra, Marka van Blitterswijk, Mercedes Prudencio, Ralph B. Perkerson, Amelia E Piazza-Johnston, Caroline Stetler, Ranjan Batra, Kevin F. Bieniek, Karen Overstreet, Rosa Rademakers, Kevin B. Boylan, Leonard Petrucelli, Hu Li, Matt Baker, Christopher D. Link, Luc Pregent, Michael DeTure, Melissa E. Murray, Tania F. Gendron, Pamela Desaro, Veronique V. Belzil, Wing C. Lee, Dennis W. Dickson
Publikováno v:
Nature neuroscience
Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA fo
Autor:
Dennis W. Dickson, Luc Pregent, Tania F. Gendron, Leonard Petrucelli, Mercedes Prudencio, Lillian M. Daughrity, Kevin B. Boylan, Rosa Rademakers, Peter O. Bauer, Caroline Stetler, Tushar Patel, Matt Baker, Veronique V. Belzil, Irene K. Yan
Publikováno v:
Acta neuropathologica
Acta Neuropathologica
Acta Neuropathologica
Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a significant portion of patients suffering from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Elucidating how these expanded repeats cause “c9FTD