Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Pamela Desaro"'
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:
Mercedes Prudencio, Aishe Kurti, Jeannette N. Stankowski, Dennis W. Dickson, Linda Rousseau, Emilie A. Perkerson, Yong Jie Zhang, Tania F. Gendron, Ena C. Whitelaw, Dieter Edbauer, Peter O. Bauer, Karen Overstreet, Lillian M. Daughrity, Leonard Petrucelli, Pamela Desaro, Karen Jansen-West, Kevin F. Bieniek, John D. Fryer, Melissa E. Murray, Amelia Johnston, Rosa Rademakers, Monica Castanedes-Casey, Chris W. Lee, Hiroki Sasaguri, Caroline Stetler, Jeannie Chew, Kevin B. Boylan
Publikováno v:
Science
The major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis is a G(4)C(2) repeat expansion in C9ORF72. Efforts to combat neurodegeneration associated with "c9FTD/ALS" are hindered by a lack of animal models recapitulating dis
Autor:
Neill R. Graff-Radford, Kevin F. Bieniek, Kevin B. Boylan, Monica Castanedes-Casey, Janice Robertson, Nicola J. Rutherford, Wen Lang Lin, Dennis W. Dickson, Masataka Nakamura, Melissa E. Murray, Rosa Rademakers, Pamela Desaro, Matt Baker
Publikováno v:
Acta neuropathologica
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder affecting upper and lower motor neurons, but it is increasingly recognized to affect other systems, with cognitive impairment resembling frontotemporal dementia (FTD) in some patients. We
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:
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:
Jeannie, Chew, Tania F, Gendron, Mercedes, Prudencio, Hiroki, Sasaguri, Yong-Jie, Zhang, Monica, Castanedes-Casey, Chris W, Lee, Karen, Jansen-West, Aishe, Kurti, Melissa E, Murray, Kevin F, Bieniek, Peter O, Bauer, Ena C, Whitelaw, Linda, Rousseau, Jeannette N, Stankowski, Caroline, Stetler, Lillian M, Daughrity, Emilie A, Perkerson, Pamela, Desaro, Amelia, Johnston, Karen, Overstreet, Dieter, Edbauer, Rosa, Rademakers, Kevin B, Boylan, Dennis W, Dickson, John D, Fryer, Leonard, Petrucelli
Publikováno v:
Science / Science now 348(6239), 1151-1154 (2015). doi:10.1126/science.aaa9344
The major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis is a G4C2 repeat expansion in C9ORF72. Efforts to combat neurodegeneration associated with "c9FTD/ALS" are hindered by a lack of animal models recapitulating disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6b5a07fe5be13274ebfc8ab2239f3e33
Autor:
John A. Lucas, Keith A. Josephs, Clotilde Lagier-Tourenne, Jie Jiang, Tania F. Gendron, Amelia Robertson, Neill R. Graff-Radford, Monica Castanedes-Casey, Colleen S. Thomas, Marka van Blitterswijk, Beth K. Rush, Pamela Desaro, Joseph E. Parisi, Kevin B. Boylan, Julia E. Crook, David S. Knopman, Karen Overstreet, Dennis W. Dickson, Linda Rousseau, Ronald C. Petersen, Lillian M. Daughrity, Kevin F. Bieniek, Melissa E. Murray, Don W. Cleveland, Leonard Petrucelli, Rosa Rademakers, Bradley F. Boeve, Otto Pedraza, Dieter Edbauer
Publikováno v:
Acta neuropathologica 130(4), 559-573 (2015). doi:10.1007/s00401-015-1474-4
Acta neuropathologica, vol 130, iss 4
Acta neuropathologica
Acta Neuropathologica
Acta neuropathologica, vol 130, iss 4
Acta neuropathologica
Acta Neuropathologica
Clinical and neuropathological characteristics associated with G4C2 repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, are highly variab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d1173437018c5dd2b28186873ccc666
Autor:
Neill R. Graff-Radford, Alexandra I. Soto-Ortolaza, Kevin B. Boylan, Ann C. McKee, Dennis W. Dickson, Amelia Johnston, Kevin F. Bieniek, Pamela Desaro, Ronald L. Walton, Owen A. Ross, Rosa Rademakers, Bradley F. Boeve, Zbignbiew K. Wszolek, Kerry Cormier
Publikováno v:
Acta neuropathologica
Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder linked to repetitive traumatic brain injury (TBI) and characterized by deposition of hyperphosphorylated tau at the depths of sulci. We sought to determine the presenc
Autor:
Colleen S. Thomas, Amelia Johnston, Karen Overstreet, Meraida Polak, Crystal Kelly, Kevin B. Boylan, Pamela Desaro, Gerry Shaw, Julia E. Crook, Cui Yang, Jonathan D. Glass
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 84(4)
Background The phosphorylated neurofilament heavy subunit (pNF-H), a major structural component of motor axons, is a promising putative biomarker in amyotrophic lateral sclerosis (ALS) but has been studied mainly in CSF. We examined pNF-H concentrati
Autor:
Neil Graff-Radford, Z. K. Wszolek, Rosa Rademakers, Pamela Desaro, Amelia Johnston, Owen A. Ross, Nilufer Ertekin-Taner, Kevin Boylan, Mariely DeJesus-Hernandez
Publikováno v:
Neurology
The valosin containing protein (VCP) is a member of the AAA-ATPase family, a group of enzymatic molecular chaperones that have been associated with a range of cellular processes including ubiquitin-proteasome mediated degradation, membrane fusion, ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5608eb3b96bfd6a386f4f49b26c79e
https://europepmc.org/articles/PMC3174069/
https://europepmc.org/articles/PMC3174069/