Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD

por Wong, Bonnie, Lucente, Diane, Krivensky, Samantha, Krahn, Erin, Karlawish, Jason, Dickerson, Bradford C.
Publicado 2021

Prolonged tau clearance and stress vulnerability rescue by pharmacological activation of autophagy in tauopathy neurons

por Silva, M. Catarina, Nandi, Ghata A., Tentarelli, Sharon, Gurrell, Ian K., Jamier, Tanguy, Lucente, Diane, Dickerson, Bradford C., Brown, Dean G., Brandon, Nicholas J., Haggarty, Stephen J.
Publicado 2020

Targeted degradation of aberrant tau in frontotemporal dementia patient-derived neuronal cell models

por Silva, M Catarina, Ferguson, Fleur M, Cai, Quan, Donovan, Katherine A, Nandi, Ghata, Patnaik, Debasis, Zhang, Tinghu, Huang, Hai-Tsang, Lucente, Diane E, Dickerson, Bradford C, Mitchison, Timothy J, Fischer, Eric S, Gray, Nathanael S, Haggarty, Stephen J
Publicado 2019

A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes

por Pao, Ping-Chieh, Seo, Jinsoo, Lee, Audrey, Kritskiy, Oleg, Patnaik, Debasis, Penney, Jay, Raju, Ravikiran M., Geigenmuller, Ute, Silva, M. Catarina, Lucente, Diane E., Gusella, James F., Dickerson, Bradford C., Loon, Anjanet, Yu, Margaret X., Bula, Michael, Yu, Melody, Haggarty, Stephen J., Tsai, Li-Huei
Publicado 2023

Population-specific genetic modification of Huntington's disease in Venezuela

por Chao, Michael J., Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C., Li, Hong, Roach, Jared C., Hood, Leroy, Wexler, Nancy S., Jardim, Laura B., Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min
Publicado 2018

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

por McLean, Zachariah L., Gao, Dadi, Correia, Kevin, Roy, Jennie C. L., Shibata, Shota, Farnum, Iris N., Valdepenas-Mellor, Zoe, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P., Lee, Jong-Min, MacDonald, Marcy E., Wheeler, Vanessa C., Pinto, Ricardo Mouro, Gusella, James F.
Publicado 2023

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

por Mouro Pinto, Ricardo, Arning, Larissa, Giordano, James V, Razghandi, Pedram, Andrew, Marissa A, Gillis, Tammy, Correia, Kevin, Mysore, Jayalakshmi S, Grote Urtubey, Debora-M, Parwez, Constanze R, von Hein, Sarah M, Clark, H Brent, Nguyen, Huu Phuc, Förster, Eckart, Beller, Allison, Jayadaev, Suman, Keene, C Dirk, Bird, Thomas D, Lucente, Diane, Vonsattel, Jean-Paul, Orr, Harry, Saft, Carsten, Petrasch-Parwez, Elisabeth, Wheeler, Vanessa C
Publicado 2020

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

por Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Publicado 2017

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

por McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S., Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J., Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E., Long, Jeffrey D., Aylward, Elizabeth H., Landwehrmeyer, G. Bernhard, Rosser, Anne E., Paulsen, Jane S., Williams, Nigel M., Gusella, James F., Monckton, Darren G., Allen, Nicholas D., Holmans, Peter, Jones, Lesley, Massey, Thomas H.
Publicado 2022

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

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

por Staffaroni, Adam M., Cobigo, Yann, Goh, Sheng-Yang M., Kornak, John, Bajorek, Lynn, Chiang, Kevin, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford C., Dickinson, Susan, Dominguez, Sophia, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie A., Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Heuer, Hilary W., Hsiung, Ging-Yuek, Huey, Edward D., Irwin, David J., Jones, David T., Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel I., Kerwin, Diana R., Knopman, David S., Kraft, Ruth, Kramer, Joel H., Kremers, Walter K., Kukull, Walter A., Litvan, Irene, Ljubenkov, Peter A., Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily, Mendez, Mario F., Miller, Bruce L., Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P., Rascovsky, Katya, Roberson, Erik D., Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M., Syrjanen, Jeremy, Tartaglia, M. Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., Rosen, Howard J.
Publicado 2020

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

por Staffaroni, Adam M., Bajorek, Lynn, Casaletto, Kaitlin B., Cobigo, Yann, Goh, Sheng-Yang M., Wolf, Amy, Heuer, Hilary W., Elahi, Fanny M., Ljubenkov, Peter A., Dever, Reilly, Kornak, John, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christina, Coppola, Giovanni, Dheel, Christina, Dickerson, Bradford C., Dickinson, Susan, Dominguez, Sophia, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie A., Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Ging-Yuek, Huey, Edward D., Irwin, David J., Jones, David T., Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel I., Kerwin, Diana R., Knopman, David S., Kraft, Ruth, Kremers, Walter K., Kukull, Walter A., Litvan, Irene, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily, Mendez, Mario F., Miller, Bruce L., Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P., Rascovsky, Katya, Roberson, Erik D., Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M., Syrjanen, Jeremy, Tartaglia, M. Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., Kramer, Joel H., Rosen, Howard J.
Publicado 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

por Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Van Damme, Philip, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Lyn, Adeline Su, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, Rohrer, Jonathan D
Publicado 2019