Genetics of Early-Onset Alzheimer Dementia

by Rosa Rademakers, Marc Cruts, Christine Van Broeckhoven
Published 2003-01-01

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

by Andrew E. Arrant, Alexandra M. Nicholson, Xiaolai Zhou, Rosa Rademakers, Erik D. Roberson
Published 2018-06-01

C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation

by Keith A. Josephs, Yong-Jie Zhang, Matthew Baker, Rosa Rademakers, Leonard Petrucelli, Dennis W. Dickson
Published 2019-07-01

Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

by Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky, Dennis W. Dickson
Published 2020-06-01

Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

by Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky, Dennis W. Dickson
Published 2020-05-01

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

by Nobutaka Sakae, Kevin F. Bieniek, Yong-Jie Zhang, Kelly Ross, Tania F. Gendron, Melissa E. Murray, Rosa Rademakers, Leonard Petrucelli, Dennis W. Dickson
Published 2018-07-01

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review

by Emil Ygland, Danielle van Westen, Elisabet Englund, Rosa Rademakers, Zbigniew K. Wszolek, Karin Nilsson, Christer Nilsson, Maria Landqvist Waldö, Irina Alafuzoff, Oskar Hansson, Lars Gustafson, Andreas Puschmann
Published 2018-01-01

TMEM106B haplotypes have distinct gene expression patterns in aged brain

by 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
Published 2018-07-01

FDG-PET in presymptomatic C9orf72 mutation carriers

by Karteek Popuri, Mirza Faisal Beg, Hyunwoo Lee, Rakesh Balachandar, Lei Wang, Vesna Sossi, Claudia Jacova, Matt Baker, Elham Shahinfard, Rosa Rademakers, Ian R.A. Mackenzie, Ging-Yuek R. Hsiung
Published 2021-01-01

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

by 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
Published 2019-09-01

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

by Daniel A. Mordes, Mercedes Prudencio, Lindsey D. Goodman, Joseph R. Klim, Rob Moccia, Francesco Limone, Olli Pietilainen, Kaitavjeet Chowdhary, Dennis W. Dickson, Rosa Rademakers, Nancy M. Bonini, Leonard Petrucelli, Kevin Eggan
Published 2018-07-01

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

by Karteek Popuri, Emma Dowds, Mirza Faisal Beg, Rakesh Balachandar, Mahadev Bhalla, Claudia Jacova, Adrienne Buller, Penny Slack, Pheth Sengdy, Rosa Rademakers, Dana Wittenberg, Howard H. Feldman, Ian R. Mackenzie, Ging-Yuek R. Hsiung
Published 2018-01-01

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olf...

by Katerina Markopoulou, Bruce A Chase, Piotr Robowski, Audrey Strongosky, Ewa Narożańska, Emilia J Sitek, Mariusz Berdynski, Maria Barcikowska, Matt C Baker, Rosa Rademakers, Jarosław Sławek, Christine Klein, Katja Hückelheim, Meike Kasten, Zbigniew K Wszolek
Published 2016-01-01

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

by Bret M. Evers, Carlos Rodriguez-Navas, Rachel J. Tesla, Janine Prange-Kiel, Catherine R. Wasser, Kyoung Shin Yoo, Jeffrey McDonald, Basar Cenik, Thomas A. Ravenscroft, Florian Plattner, Rosa Rademakers, Gang Yu, Charles L. White, III, Joachim Herz
Published 2017-09-01

Identification of missing variants by combining multiple analytic pipelines

by Yingxue Ren, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P. Sinnwell, Shannon K. McDonnell, Joanna M. Biernacka, Minerva M. Carrasquillo, Owen A. Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W. Asmann
Published 2018-04-01

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

by 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
Published 2020-01-01

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

by Yari Carlomagno, Dah-eun Chloe Chung, Mei Yue, Aishe Kurti, Nicole M. Avendano, Monica Castanedes-Casey, Kelly M. Hinkle, Karen Jansen-West, Lillian M. Daughrity, Jimei Tong, Virginia Phillips, Rosa Rademakers, Michael DeTure, John D. Fryer, Dennis W. Dickson, Leonard Petrucelli, Casey Cook
Published 2019-01-01

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

by Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook, Daniel J. Serie, Michael G. Heckman, NiCole A. Finch, Richard J. Caselli, Ryan J. Uitti, Zbigniew K. Wszolek, Neill Graff-Radford, Leonard Petrucelli, Li-San Wang, Gerard D. Schellenberg, Dennis W. Dickson, Rosa Rademakers, Owen A. Ross
Published 2018-07-01

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

by Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Published 2018-08-01

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

by Suzee E. Lee, Ana C. Sias, Maria Luisa Mandelli, Jesse A. Brown, Alainna B. Brown, Anna M. Khazenzon, Anna A. Vidovszky, Theodore P. Zanto, Anna M. Karydas, Mochtar Pribadi, Deepika Dokuru, Giovanni Coppola, Dan H. Geschwind, Rosa Rademakers, Maria Luisa Gorno-Tempini, Howard J. Rosen, Bruce L. Miller, William W. Seeley
Published 2017-01-01