Systems analysis of blood transcriptomes in dementia patients reveals an innate immune response shared across disorders
Nachun, Daniel, Ramos, Eliana Marisa, Karydas, Anna, Dokuru, Deepika, Gao, Fuying, Yang, Zhongan, Victoria Van Berlo, Sears, Renee L, Kramer, Joel, Boxer, Adam L, Rosen, Howard H, Miller, Bruce L, Coppola, Giovanni
Published in bioRxiv (13.12.2019)
Published in bioRxiv (13.12.2019)
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TSC1 loss-of-function increases risk for tauopathy by inducing tau acetylation and preventing autophagy-mediated tau clearance
Alquezar, Carolina, Schoch, Kathleen M, Geier, Ethan G, Ramos, Eliana Marisa, Scrivo, Aurora, Li, Kathy, Argouarch, Andrea R, Mlynarski, Elisabeth E, Dombroski, Beth, Yokoyama, Jennifer S, Cuervo, Ana M, Burlingame, Alma L, Schellenberg, Gerard D, Miller, Timothy M, Miller, Bruce L, Kao, Aimee W
Published in bioRxiv (08.11.2020)
Published in bioRxiv (08.11.2020)
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Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients
Ramos, Eliana Marisa, Keagle, Pamela, Gillis, Tammy, Lowe, Patrick, Mysore, Jayalakshmi S., Leclerc, Ashley Lyn, Ratti, Antonia, Ticozzi, Nicola, Gellera, Cinzia, Gusella, James F., Silani, Vincenzo, Alonso, Isabel, Brown, Robert H., Macdonald, Marcy E., Landers, John E.
Published in Amyotrophic lateral sclerosis (01.05.2012)
Published in Amyotrophic lateral sclerosis (01.05.2012)
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Genetic risk underlying psychiatric and cognitive symptoms in Huntington's Disease
Ellis, Natalie, Tee, Amelia, Mcallister, Branduff, Massey, Thomas, Mclauchlan, Duncan, Stone, Timothy, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J, Long, Jeffrey D, Lucente, Diane, Vonsattel, Jean Paul G, Pinto, Ricardo Mouro, Kawther Abu Elneel, Ramos, Eliana Marisa, Jayalakshmi Srinidhi Mysore, Gillis, Tammy, Wheeler, Vanessa C, Medway, Christopher, Hall, Lynsey, Kwak, Seung, Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren, Orth, Michael, G Bernhard Landwehrmeyer, Paulsen, Jane S, Shoulson, Ira, Myers, Richard, Erik Van Duijn, Rickards, Hugh, Macdonald, Marcy, Jong-Min, Lee, Gusella, James F, Jones, Lesley, Holmans, Peter
Published in bioRxiv (12.08.2019)
Published in bioRxiv (12.08.2019)
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Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms
Genetic Modifiers Of Huntington's Disease (Gem-Hd) Consortium, Jong-Min, Lee, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J, Long, Jeffrey D, Lucente, Diane, Jean-Paul Vonsattel, Pinto, Ricardo Mouro, Kawther Abu Elneel, Ramos, Eliana Marisa, Jayalakshmi Srinidhi Mysore, Gillis, Tammy, Wheeler, Vanessa C, Macdonald, Marcy E, Gusella, James F, Massey, Thomas, Mcallister, Branduff, Medway, Christopher, Stone, Timothy C, Hall, Lynsey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Ehrhardt, Anka, Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G, Orth, Michael, G Bernhard Landwehrmeyer, Paulsen, Jane S, Dorsey, E Ray, Shoulson, Ira, Myers, Richard H
Published in bioRxiv (24.01.2019)
Published in bioRxiv (24.01.2019)
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Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia
Olney, Nicholas T, Alquezar, Carolina, Ramos, Eliana Marisa, Nana, Alissa L, Fong, Jamie C, Karydas, Anna M, Taylor, Joanne B, Stephens, Melanie L, Argouarch, Andrea R, Van Berlo, Victoria A, Dokuru, Deepika R, Sherr, Elliott H, Jicha, Gregory A, Dillon, William P, Desikan, Rahul S, De May, Mary, Seeley, William W, Coppola, Giovanni, Miller, Bruce L, Kao, Aimee W
Published in Acta neuropathologica (01.11.2017)
Published in Acta neuropathologica (01.11.2017)
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Huang, Alden Y, Yu, Dongmei, Davis, Lea K, Jae-Hoon Sul, Tsetsos, Fotis, Ramensky, Vasily, Zelaya, Ivette, Ramos, Eliana Marisa, Osiecki, Lisa, Chen, Jason A, Mcgrath, Lauren M, Illmann, Cornelia, Sandor, Paul, Barr, Cathy L, Grados, Marco, Singer, Harvey S, Noethen, Markus M, Hebebrand, Johannes, King, Robert A, Dion, Yves, Rouleau, Guy, Budman, Cathy L, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Muller-Vahl, Kirsten R, Stuhrmann, Manfred, Aschauer, Harald, Stamenkovic, Mara, Schloegelhofer, Monika, Konstantinidis, Anastasios, Lyon, Gholson L, Mcmahon, William M, Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Batterson, James R, Rizzo, Renata, Cath, Danielle C, Wolanczyk, Tomasz, Berlin, Cheston, Malaty, Irene A, Okun, Michael S, Woods, Douglas W, Rees, Elliott, Pato, Carlos N, Pato, Michele T, Knowles, James A, Posthuma, Danielle, Pauls, David L, Cox, Nancy J, Neale, Benjamin M, Freimer, Nelson B, Paschou, Peristera, Mathews, Carol A, Scharf, Jeremiah M, Coppola, Giovanni, Tsaicg/ggri
Published in bioRxiv (08.07.2016)
Published in bioRxiv (08.07.2016)
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