Boylan, Kevin B
Mayo Clinic
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Citations 5
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72‐associated amyotrophic lateral sclerosis
Daughrity, Lillian M. , Diehl, Nancy N. , Wuu, Joanne , Miller, Timothy M. , Pástor, Pau , Trojanowski, John Q. , Hu, William T. , Ratti, Antonia , Benatar, Michael , Glass, Jonathan, Floeter, Mary Kay, Jeromin, Andreas, Petrucelli, Leonard , Group, the C9ORF72 Neurofilament Study, Toledo, Jon B. , Prudencio, Mercedes , Morelli, Claudia , Poletti, Barbara , Gendron, Tania F. , Boylan, Kevin B, Heckman, Michael G. , Grossman, Murray , Berry, James D. , Silani, Vincenzo , Boylan, Khrista , Group, the C9ORF72 Neurofilament Study, Prudencio, Mercedes , Poletti, Barbara , Pastor, Pau , Hu, William T.
Annals of Neurology | June 19, 2017 | Volume: 82 | Issue: 1 | Pages: 139-146
As potential treatments for C9ORF72‐associated amyotrophic lateral sclerosis (c9ALS) approach clinical trials, the identification of prognostic biomarkers for c9ALS becomes a priority. We show that levels of phosphorylated neurofilament heavy chain (pNFH) in cerebrospinal fluid (CSF) predict disease status and survival in c9ALS patients, and are largely stable over time. Moreover, c9ALS patients exhibit higher pNFH levels, more rapid disease progression, and shorter survival after disease onset than ALS patients without C9ORF72 expansions. These data support the use of CSF pNFH as a prognostic biomarker for clinical trials, which will increase the likelihood of successfully developing a treatment for c9ALS. Ann Neurol 2017;82:139–146
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients
Prudencio, Mercedes , Gonzales, Patrick , Cook, Casey , Daughrity, Lillian M. , Song, Yuping , Ebbert, Mark , Blitterswijk, Marka van , Zhang, Yong‐Jie , Jansen‐West, Karen , DeTure, Michael , Rademakers, Rosa , Petrucelli, Leonard , Link, Christopher D. , Cook, Casey N, Gendron, Tania F. , Ebbert, Mark T W, Jansen-West, Karen, Baker, Matthew C, Boylan, Kevin B, Baker, Matthew , Boylan, Khrista , Dickson, Dennis W. , Zhang, Yong-Jie , Prudencio, Mercedes , van Blitterswijk, Marka , Ebbert, Mark T W
Human Molecular Genetics | June 14, 2017 | Volume: 26 | Issue: 17 | Pages: 3421-3431
Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers
Finch, NiCole A., Wang, Xue , Bieniek, Kevin F. , Wuu, Joanne , DeJesus‐Hernandez, Mariely, Brown, Patricia H., Chew, Jeannie , Jansen‐West, Karen , Daughrity, Lillian M. , Nicholson, Alexandra M., Murray, Melissa E. , Josephs, Keith A. , Parisi, Joseph E., Petersen, Ronald C. , Petrucelli, Leonard , Graff‐Radford, Neill R. , Asmann, Yan W. , Benatar, Michael , Bowser, Robert , Rademakers, Rosa , Blitterswijk, Marka van , Baker, Matthew C, Gendron, Tania F. , DeJesus-Hernandez, Mariely, Jansen-West, Karen R, Boylan, Kevin B, Baker, Matthew , Heckman, Michael G. , Knopman, David S. , Boeve, Bradley F. , Dickson, Dennis W. , Boylan, Khrista , van Blitterswijk, Marka , Murray, Melissa E
Neurology Genetics | June 8, 2017 | Volume: 3 | Issue: 4 | Pages: No page available
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis
Chew, Jeannie , Stankowski, Jeannette N. , Hayes, Lindsey R. , Zhang, Yong‐Jie , Prudencio, Mercedes , Carlomagno, Yari , Daughrity, Lillian M. , Jansen‐West, Karen , Perkerson, Emilie A., O’Raw, Aliesha D. , Cook, Casey , Pregent, Luc , Belzil, Véronique , Blitterswijk, Marka van , Tabassian, Lilia J., Lee, Chris W. , Yue, Mei, Tong, Jimei, Song, Yuping , Castanedes‐Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John Denis , Rush, Beth , Pedraza, Otto , Caputo, Ana M., Desaro, Pamela , Palmucci, Carla, Robertson, A. , Diehl, Nancy N. , Wiggs, Edythe, Tierney, Michael , Braun, Laura, Farren, Jennifer, Lacomis, David , Fournier, Christina , McCluskey, Leo, Elman, Lauren , Toledo, Jon B. , McBride, Jennifer D. , Tiloca, Cinzia , Morelli, Claudia , Poletti, Barbara , Solca, Federica , Wuu, Joanne , Jockel‐Balsarotti, Jennifer , Rigo, Frank , Ambrose, Christine, Yang, Weixing , Raitcheva, Denitza , Antognetti, Giovanna, McCampbell, Alexander , Boxer, Adam L. , Brown, Robert H. , Bowser, Robert , Miller, Timothy M. , Trojanowski, John Q. , Hu, William T. , Ratti, Antonia , Benatar, Michael , Glass, Jonathan D. , Floeter, Mary Kay, Petrucelli, Leonard , Gendron, Tania F. , Zhang, Yong-Jie , Prudencio, Mercedes , Carlomagno, Yari , Jansen-West, Karen, O'Raw, Aliesha , Pregent, Luc , Belzil, Veronique , van Blitterswijk, Marka , Castanedes-Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John D., Desaro, Pamela , Palmucci, Carla , Robertson, Amelia , Lacomis, David , Ladha, Shafeeq , Tiloca, Cinzia , Poletti, Barbara , Solca, Federica , Prelle, Alessandro , Jockel-Balsarotti, Jennifer , Yang, Weixing , Raitcheva, Denitza , Benatar, Michael , Silani, Vincenzo , Boylan, Kevin B, Petrucelli, Leonard , Dickson, Dennis W. , Heckman, Michael G. , Ladha, Shafeeq , Datta, Abhishek , Swieten, John C. van , Miller, Bruce L. , Grossman, Murray , Berry, James D. , Traynor, Bryan J. , Disney, Matthew D. , Silani, Vincenzo , Rothstein, Jeffrey D. , Boylan, Khrista , Hu, William T.
Science Translational Medicine | March 29, 2017 | Volume: 9 | Issue: 383 | Pages: No page available
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics for treating C9ORF72 -associated amyotrophic lateral sclerosis.
C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
Chew, Jeannie , 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 , 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 , Fryer, John Denis , Petrucelli, Leonard , Gendron, Tania F. , Castanedes-Casey, Monica, Jansen-West, Karen, Bauer, Peter O, Boylan, Kevin B, Fryer, John D., Boylan, Khrista , Dickson, Dennis W. , Zhang, Yong-Jie , Prudencio, Mercedes , Murray, Melissa E
Science | May 14, 2015 | Volume: 348 | Issue: 6239 | Pages: 1151-1154
A mouse model for ALS A G4C2 repeat expansion in C9ORF72 is known to be the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). However, a lack of animal models recapitulating key disease features has hindered efforts to understand and prevent c9FTD/ALS-related neurodegeneration. Until now. Chew et al. describe a mouse model that mimics both neuropathological and clinical phenotypes of c9FTD/ALS. Science , this issue p. 1151