Germline Mutation in RNASEL Predicts Increased Risk of Head and Neck, Uterine Cervix and Breast Cancer

por Madsen, Bo Eskerod, Ramos, Eliana Marisa, Boulard, Mathieu, Duda, Katarzyna, Overgaard, Jens, Nordsmark, Marianne, Wiuf, Carsten, Hansen, Lise Lotte
Publicado 2008

Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior

por Friedberg, Adit, Ramos, Eliana Marisa, Yang, Zhongan, Bonham, Luke W., Yokoyama, Jennifer S., Ljubenkov, Peter A., Younes, Kyan, Geschwind, Daniel H., Miller, Bruce L.
Publicado 2022

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

por Ramos, Eliana Marisa, Kovalenko, Marina, Guide, Jolene R., St. Claire, Jason, Gillis, Tammy, Mysore, Jayalakshmi S., Sequeiros, Jorge, Wheeler, Vanessa C., Alonso, Isabel, MacDonald, Marcy E.
Publicado 2015

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

por Almeida, Teresa, Alonso, Isabel, Martins, Sandra, Ramos, Eliana Marisa, Azevedo, Luísa, Ohno, Kinji, Amorim, António, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Matsuura, Tohru, Sequeiros, Jorge, Silveira, Isabel
Publicado 2009

Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression

por Sirkis, Daniel W., Bonham, Luke W., Aparicio, Renan E., Geier, Ethan G., Ramos, Eliana Marisa, Wang, Qing, Karydas, Anna, Miller, Zachary A., Miller, Bruce L., Coppola, Giovanni, Yokoyama, Jennifer S.
Publicado 2016

Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington’s Disease Neural Stem Cells

por Ring, Karen L., An, Mahru C., Zhang, Ningzhe, O’Brien, Robert N., Ramos, Eliana Marisa, Gao, Fuying, Atwood, Robert, Bailus, Barbara J., Melov, Simon, Mooney, Sean D., Coppola, Giovanni, Ellerby, Lisa M.
Publicado 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

por Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Lee, Jong‐Min, Gögele, Martin, D'Elia, Yuri, Pichler, Irene, Sequeiros, Jorge, Pramstaller, Peter P., Gusella, James F., MacDonald, Marcy E., Alonso, Isabel
Publicado 2015

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

por Arrant, Andrew E., Roth, Jonathan R., Boyle, Nicholas R., Kashyap, Shreya N., Hoffmann, Madelyn Q., Murchison, Charles F., Ramos, Eliana Marisa, Nana, Alissa L., Spina, Salvatore, Grinberg, Lea T., Miller, Bruce L., Seeley, William W., Roberson, Erik D.
Publicado 2019

A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction

por Lopez, Ana, Lee, Suzee E., Wojta, Kevin, Ramos, Eliana Marisa, Klein, Eric, Chen, Jason, Boxer, Adam L., Gorno-Tempini, Maria Luisa, Geschwind, Daniel H., Schlotawa, Lars, Ogryzko, Nikolay V., Bigio, Eileen H., Rogalski, Emily, Weintraub, Sandra, Mesulam, Marsel M., Fleming, Angeleen, Coppola, Giovanni, Miller, Bruce L., Rubinsztein, David C.
Publicado 2017

Integrated genomics and proteomics to define huntingtin CAG length-dependent networks in HD Mice

por Langfelder, Peter, Cantle, Jeffrey P., Chatzopoulou, Doxa, Wang, Nan, Gao, Fuying, Al-Ramahi, Ismael, Lu, Xiao-Hong, Ramos, Eliana Marisa, El-Zein, Karla, Zhao, Yining, Deverasetty, Sandeep, Tebbe, Andreas, Schaab, Christoph, Lavery, Daniel J., Howland, David, Kwak, Seung, Botas, Juan, Aaronson, Jeffrey S., Rosinski, Jim, Coppola, Giovanni, Horvath, Steve, Yang, X. William
Publicado 2016

TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy

por Alquezar, Carolina, Schoch, Kathleen M., Geier, Ethan G., Ramos, Eliana Marisa, Scrivo, Aurora, Li, Kathy H., Argouarch, Andrea R., Mlynarski, Elisabeth E., Dombroski, Beth, DeTure, Michael, Dickson, Dennis W., Yokoyama, Jennifer S., Cuervo, Ana M., Burlingame, Alma L., Schellenberg, Gerard D., Miller, Timothy M., Miller, Bruce L., Kao, Aimee W.
Publicado 2021

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers

por Lee, Suzee E., Sias, Ana C., Kosik, Eena L., Flagan, Taru M., Deng, Jersey, Chu, Stephanie A., Brown, Jesse A., Vidovszky, Anna A., Ramos, Eliana Marisa, Gorno-Tempini, Maria Luisa, Karydas, Anna M., Coppola, Giovanni, Geschwind, Daniel H., Rademakers, Rosa, Boeve, Bradley F., Boxer, Adam L., Rosen, Howard J., Miller, Bruce L., Seeley, William W.
Publicado 2019

Brain calcifications and PCDH12 variants

por Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R., Ferreira, Joana, Moura, Denis, Sobrido, Maria J., Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H., Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W., Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R.M.
Publicado 2017

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

por 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.
Publicado 2017

A novel temporal‐predominant neuro‐astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS‐TDP

por Llibre‐Guerra, Jorge J., Lee, Suzee E., Suemoto, Claudia K., Ehrenberg, Alexander J., Kovacs, Gabor G., Karydas, Anna, Staffaroni, Adam, Franca Resende, Elisa De Paula, Kim, Eun‐Joo, Hwang, Ji‐Hye, Ramos, Eliana Marisa, Wojta, Kevin J., Pasquini, Lorenzo, Pang, Shirley Yin‐Yu, Spina, Salvatore, Allen, Isabel E., Kramer, Joel, Miller, Bruce L., Seeley, William W., Grinberg, Lea T.
Publicado 2021

Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

por Bonham, Luke W., Geier, Ethan G., Sirkis, Daniel W., Leong, Josiah K., Ramos, Eliana Marisa, Wang, Qing, Karydas, Anna, Lee, Suzee E., Sturm, Virginia E., Sawyer, Russell P., Friedberg, Adit, Ichida, Justin K., Gitler, Aaron D., Sugrue, Leo, Cordingley, Michael, Bee, Walter, Weber, Eckard, Kramer, Joel H., Rankin, Katherine P., Rosen, Howard J., Boxer, Adam L., Seeley, William W., Ravits, John, Miller, Bruce L., Yokoyama, Jennifer S.
Publicado 2023

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado 2012

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado 2013

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

por 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, Elneel, Kawther Abu, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., Medway, Christopher, Hall, Lynsey, Kwak, Seung, Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Shoulson, Ira, Myers, Richard H., van Duijn, Erik, Rickards, Hugh, MacDonald, Marcy E., Lee, Jong-min, Gusella, James F., Jones, Lesley, Holmans, Peter
Publicado 2020

Nonlinear Z-score modeling for improved detection of cognitive abnormality

por Kornak, John, Fields, Julie, Kremers, Walter, Farmer, Sara, Heuer, Hilary W., Forsberg, Leah, Brushaber, Danielle, Rindels, Amy, Dodge, Hiroko, Weintraub, Sandra, Besser, Lilah, Appleby, Brian, Bordelon, Yvette, Bove, Jessica, Brannelly, Patrick, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford, Dickinson, Susan, Dominguez, Sophia, Domoto-Reilly, Kimiko, Faber, Kelley, Ferrall, Jessica, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Gavrilova, Ralitza, Gearhart, Deb, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian M., Grossman, Murray, Haley, Dana, Hsiao, John, Hsiung, Robin, Huey, Edward D., Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Knopman, David, Kraft, Ruth, Kramer, Joel, Kukull, Walter, Lapid, Maria, Litvan, Irene, Ljubenkov, Peter, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian, Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott, McKinley, Emily, Mendez, Mario, Miller, Bruce, Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Roberson, Erik D., Rogalski-Miller, Emily, Sengdy, Pheth, Shaw, Les, Staffaroni, Adam M., Sutherland, Margaret, Syrjanen, Jeremy, Tartaglia, Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boeve, Brad, Boxer, Adam, Rosen, Howard
Publicado 2019