Tau Pathology in Frontotemporal Lobar Degeneration with C9ORF72 Hexanucleotide Repeat Expansion

অনুযায়ী Bieniek, Kevin F., Murray, Melissa E., Rutherford, Nicola J., Castanedes-Casey, Monica, DeJesus-Hernandez, Mariely, Liesinger, Amanda M., Baker, Matthew C., Boylan, Kevin B., Rademakers, Rosa, Dickson, Dennis W.
প্রকাশিত 2012

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

অনুযায়ী Cannon, Ashley, Fujioka, Shinsuke, Rutherford, Nicola J., Ferman, Tanis J., Broderick, Daniel F., Boylan, Kevin B., Graff-Radford, Neill R., Uitti, Ryan J., Rademakers, Rosa, Wszolek, Zbigniew K., Dickson, Dennis W.
প্রকাশিত 2013

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

অনুযায়ী Esanov, Rustam, Belle, Kinsley C., van Blitterswijk, Marka, Belzil, Veronique V., Rademakers, Rosa, Dickson, Dennis W., Petrucelli, Leonard, Boylan, Kevin B., Dykxhoorn, Derek M., Wuu, Joanne, Benatar, Michael, Wahlestedt, Claes, Zeier, Zane
প্রকাশিত Exp Neurol (2015)

TARDBP mutations in Parkinson’s disease

অনুযায়ী Rayaprolu, Sruti, Fujioka, Shinsuke, Traynor, Sharleen, Soto-Ortolaza, Alexandra I., Petrucelli, Leonard, Dickson, Dennis W., Rademakers, Rosa, Boylan, Kevin B., Graff-Radford, Neill R., Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A.
প্রকাশিত 2012

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

অনুযায়ী Murray, Melissa E., DeJesus-Hernandez, Mariely, Rutherford, Nicola J., Baker, Matt, Duara, Ranjan, Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Josephs, Keith A., Boylan, Kevin B., Rademakers, Rosa, Dickson, Dennis W.
প্রকাশিত 2011

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

অনুযায়ী van Blitterswijk, Marka, Baker, Matthew C., Bieniek, Kevin F., Knopman, David S., Josephs, Keith A., Boeve, Bradley, Caselli, Richard, Wszolek, Zbigniew K., Petersen, Ronald, Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত 2013

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

অনুযায়ী Nakamura, Masataka, Bieniek, Kevin F., Lin, Wen-Lang, Graff-Radford, Neill R., Murray, Melissa E., Castanedes-Casey, Monica, Desaro, Pamela, Baker, Matthew C., Rutherford, Nicola J., Robertson, Janice, Rademakers, Rosa, Dickson, Dennis W., Boylan, Kevin B.
প্রকাশিত Acta Neuropathol (2015)

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

অনুযায়ী Ash, Peter E.A., Bieniek, Kevin F., Gendron, Tania F., Caulfield, Thomas, Lin, Wen-Lang, DeJesus-Hernandez, Mariely, van Blitterswijk, Marka M., Jansen-West, Karen, Paul, Joseph W., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
প্রকাশিত 2013

Chronic Traumatic Encephalopathy Pathology in a Neurodegenerative Disorders Brain Bank

অনুযায়ী Bieniek, Kevin F., Ross, Owen A., Cormier, Kerry A., Walton, Ronald L., Soto-Ortolaza, Alexandra, Johnston, Amelia E., DeSaro, Pamela, Boylan, Kevin B., Graff-Radford, Neill R., Wszolek, Zbignbiew K., Rademakers, Rosa, Boeve, Bradley F., McKee, Ann C, Dickson, Dennis W.
প্রকাশিত Acta Neuropathol (2015)

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

অনুযায়ী Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
প্রকাশিত 2013

Phosphorylated neurofilament heavy chain: a biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis

অনুযায়ী Gendron, Tania F., Daughrity, Lillian M., Heckman, Michael G., Diehl, Nancy N., Wuu, Joanne, Miller, Timothy M., Pastor, Pau, Trojanowski, John Q., Grossman, Murray, Berry, James D., Hu, William T., Ratti, Antonia, Benatar, Michael, Silani, Vincenzo, Glass, Jonathan D., Floeter, Mary Kay, Jeromin, Andreas, Boylan, Kevin B., Petrucelli, Leonard
প্রকাশিত Ann Neurol (2017)

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

অনুযায়ী Prudencio, Mercedes, Gonzales, Patrick K., Cook, Casey N., Gendron, Tania F., Daughrity, Lillian M., Song, Yuping, Ebbert, Mark T.W., van Blitterswijk, Marka, Zhang, Yong-Jie, Jansen-West, Karen, Baker, Matthew C., DeTure, Michael, Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard, Link, Christopher D.
প্রকাশিত Hum Mol Genet (2017)

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

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

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

অনুযায়ী Ebbert, Mark T. W., Ross, Christian A., Pregent, Luc J., Lank, Rebecca J., Zhang, Cheng, Katzman, Rebecca B., Jansen-West, Karen, Song, Yuping, da Rocha, Edroaldo Lummertz, Palmucci, Carla, Desaro, Pamela, Robertson, Amelia E., Caputo, Ana M., Dickson, Dennis W., Boylan, Kevin B., Rademakers, Rosa, Ordog, Tamas, 4-5, Li, Hu, Belzil, Veronique V.
প্রকাশিত Acta Neuropathol (2017)

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

অনুযায়ী Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry
প্রকাশিত 2013

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

অনুযায়ী Zhang, Yong-Jie, Jansen-West, Karen, Xu, Ya-Fei, Gendron, Tania F., Bieniek, Kevin F., Lin, Wen-Lang, Sasaguri, Hiroki, Caulfield, Thomas, Hubbard, Jaime, Daughrity, Lillian, Chew, Jeannie, Belzil, Veronique V., Prudencio, Mercedes, Stankowski, Jeannette N., Castanedes-Casey, Monica, Whitelaw, Ena, Ash, Peter E. A., DeTure, Michael, Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
প্রকাশিত 2014

Associations of repeat sizes with clinical and pathological characteristics in C9ORF72 expansion carriers (Xpansize-72): a cross-sectional cohort study

অনুযায়ী van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Niemantsverdriet, Ellis, Murray, Melissa E, Heckman, Michael G, Diehl, Nancy N, Brown, Patricia H, Baker, Matthew C, Finch, NiCole A, Bauer, Peter O, Serrano, Geidy, Beach, Thomas G, Josephs, Keith A, Knopman, David S, Petersen, Ronald C, Boeve, Bradley F, Graff-Radford, Neill R, Boylan, Kevin B, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa
প্রকাশিত 2013

Jump from Pre-mutation to Pathologic Expansion in C9orf72

অনুযায়ী Xi, Zhengrui, van Blitterswijk, Marka, Zhang, Ming, McGoldrick, Philip, McLean, Jesse R., Yunusova, Yana, Knock, Erin, Moreno, Danielle, Sato, Christine, McKeever, Paul M., Schneider, Raphael, Keith, Julia, Petrescu, Nicolae, Fraser, Paul, Tartaglia, Maria Carmela, Baker, Matthew C., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Mackenzie, Ian R., Rademakers, Rosa, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina
প্রকাশিত Am J Hum Genet (2015)

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

অনুযায়ী Pottier, Cyril, Bieniek, Kevin F., Finch, NiCole, van de Vorst, Maartje, Baker, Matt, Perkersen, Ralph, Brown, Patricia, Ravenscroft, Thomas, van Blitterswijk, Marka, Nicholson, Alexandra M., DeTure, Michael, Knopman, David S., Josephs, Keith A., Parisi, Joseph E., Petersen, Ronald, Boylan, Kevin B., Boeve, Bradley F., Graff-Radford, Neill R., Veltman, Joris A., Gilissen, Christian, Murray, Melissa, Dicksonand, Dennis W., Rademakers, Rosa
প্রকাশিত Acta Neuropathol (2015)

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

অনুযায়ী van Blitterswijk, Marka, Gendron, Tania F., Baker, Matthew C., DeJesus-Hernandez, Mariely, Finch, NiCole A., Brown, Patricia H., Daughrity, Lillian M., Murray, Melissa E., Heckman, Michael G., Jiang, Jie, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W., Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Petrucelli, Leonard, Boeve, Bradley F., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত Acta Neuropathol (2015)