Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

por Fong, Jamie C, Karydas, Anna M, Goldman, Jill S
Publicado 2012

Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment

por Cooper, Yonatan A., Nachun, Daniel, Dokuru, Deepika, Yang, Zhongan, Karydas, Anna M., Serrero, Ginette, Yue, Binbin, Boxer, Adam L., Miller, Bruce L., Coppola, Giovanni
Publicado 2018

Young‐onset frontotemporal dementia in a homozygous tau R406W mutation carrier

por Ng, Adeline S. L., Sias, Ana C., Pressman, Peter S., Fong, Jamie C., Karydas, Anna M., Zanto, Theodore P., De May, Mary, Coppola, Giovanni, Geschwind, Daniel H., Miller, Bruce L., Lee, Suzee E.
Publicado 2015

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

por Nguyen, Andrew D., Nguyen, Thi A., Zhang, Jiasheng, Devireddy, Swathi, Zhou, Ping, Karydas, Anna M., Xu, Xialian, Miller, Bruce L., Rigo, Frank, Ferguson, Shawn M., Huang, Eric J., Walther, Tobias C., Farese, Robert V.
Publicado 2018

Elevated levels of extracellular vesicles in progranulin‐deficient mice and FTD‐GRN Patients

por Arrant, Andrew E., Davis, Skylar E., Vollmer, Rachael M., Murchison, Charles F., Mobley, James A., Nana, Alissa L., Spina, Salvatore, Grinberg, Lea T., Karydas, Anna M., Miller, Bruce L., Seeley, William W., Roberson, Erik D.
Publicado 2020

Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

por Zhang, Zhijun, Almeida, Sandra, Lu, Yubing, Nishimura, Agnes L., Peng, Lingtao, Sun, Danqiong, Wu, Bei, Karydas, Anna M., Tartaglia, Maria C., Fong, Jamie C., Miller, Bruce L., Farese, Robert V., Moore, Melissa J., Shaw, Christopher E., Gao, Fen-Biao
Publicado 2013

Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling

por Argouarch, Andrea R., Schultz, Nina, Yang, Andrew C., Jang, Yeongjun, Garcia, Kristle, Cosme, Celica G., Corrales, Christian I., Nana, Alissa L., Karydas, Anna M., Spina, Salvatore, Grinberg, Lea T., Miller, Bruce, Wyss-Coray, Tony, Abyzov, Alexej, Goodarzi, Hani, Seeley, William W., Kao, Aimee W.
Publicado 2022

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

por Lee, Suzee E., Sias, Ana C., Mandelli, Maria Luisa, Brown, Jesse A., Brown, Alainna B., Khazenzon, Anna M., Vidovszky, Anna A., Zanto, Theodore P., Karydas, Anna M., Pribadi, Mochtar, Dokuru, Deepika, Coppola, Giovanni, Geschwind, Dan H., Rademakers, Rosa, Gorno-Tempini, Maria Luisa, Rosen, Howard J., Miller, Bruce L., Seeley, William W.
Publicado 2016

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

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

Diagnostic value of plasma phosphorylated tau181 in Alzheimer’s disease and frontotemporal lobar degeneration

por Thijssen, Elisabeth H., La Joie, Renaud, Wolf, Amy, Strom, Amelia, Wang, Ping, Iaccarino, Leonardo, Bourakova, Viktoriya, Cobigo, Yann, Heuer, Hilary, Spina, Salvatore, VandeVrede, Lawren, Chai, Xiyun, Proctor, Nicholas K., Airey, David C., Shcherbinin, Sergey, Evans, Cynthia Duggan, Sims, John R., Zetterberg, Henrik, Blennow, Kaj, Karydas, Anna M., Teunissen, Charlotte E., Kramer, Joel H., Grinberg, Lea T., Seeley, William W., Rosen, Howie, Boeve, Bradley F., Miller, Bruce L., Rabinovici, Gil D., Dage, Jeffrey L., Rojas, Julio C., Boxer, Adam L.
Publicado 2020

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

por van Blitterswijk, Marka, Mullen, Bianca, Wojtas, Aleksandra, Heckman, Michael G, Diehl, Nancy N, Baker, Matthew C, DeJesus-Hernandez, Mariely, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White, Charles L, Neumann, Manuela, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa
Publicado 2014

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

por Meeter, Lieke H.H., Gendron, Tania F., Sias, Ana C., Jiskoot, Lize C., Russo, Silvia P., Donker Kaat, Laura, Papma, Janne M., Panman, Jessica L., van der Ende, Emma L., Dopper, Elise G., Franzen, Sanne, Graff, Caroline, Boxer, Adam L., Rosen, Howard J., Sanchez‐Valle, Raquel, Galimberti, Daniela, Pijnenburg, Yolande A. L., Benussi, Luisa, Ghidoni, Roberta, Borroni, Barbara, Laforce, Robert, del Campo, Marta, Teunissen, Charlotte E., van Minkelen, Rick, Rojas, Julio C., Coppola, Giovanni, Geschwind, Dan H., Rademakers, Rosa, Karydas, Anna M., Öijerstedt, Linn, Scarpini, Elio, Binetti, Giuliano, Padovani, Alessandro, Cash, David M., Dick, Katrina M., Bocchetta, Martina, Miller, Bruce L., Rohrer, Jonathan D., Petrucelli, Leonard, van Swieten, John C., Lee, Suzee E.
Publicado 2018

Brain volumetric deficits in MAPT mutation carriers: a multisite study

por Chu, Stephanie A., Flagan, Taru M., Staffaroni, Adam M., Jiskoot, Lize C., Deng, Jersey, Spina, Salvatore, Zhang, Liwen, Sturm, Virginia E., Yokoyama, Jennifer S., Seeley, William W., Papma, Janne M., Geschwind, Dan H., Rosen, Howard J., Boeve, Bradley F., Boxer, Adam L., Heuer, Hilary W., Forsberg, Leah K., Brushaber, Danielle E., Grossman, Murray, Coppola, Giovanni, Dickerson, Bradford C., Bordelon, Yvette M., Faber, Kelley, Feldman, Howard H., Fields, Julie A., Fong, Jamie C., Foroud, Tatiana, Gavrilova, Ralitza H., Ghoshal, Nupur, Graff‐Radford, Neill R., Hsiung, Ging‐Yuek Robin, Huey, Edward D., Irwin, David J., Kantarci, Kejal, Kaufer, Daniel I., Karydas, Anna M., Knopman, David S., Kornak, John, Kramer, Joel H., Kukull, Walter A., Lapid, Maria I., Litvan, Irene, Mackenzie, Ian R.A., Mendez, Mario F., Miller, Bruce L., Onyike, Chiadi U., Pantelyat, Alexander Y., Rademakers, Rosa, Marisa Ramos, Eliana, Roberson, Erik D., Carmela Tartaglia, Maria, Tatton, Nadine A., Toga, Arthur W., Vetor, Ashley, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew K., Van Swieten, John C., Lee, Suzee E.
Publicado 2020

Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

por Olney, Nicholas T., Ong, Elise, Goh, Sheng-Yang M., Bajorek, Lynn, Dever, Reilly, Staffaroni, Adam M., Cobigo, Yann, Bock, Meredith, Chiang, Kevin, Ljubenkov, Peter, Kornak, John, Heuer, Hilary W., Wang, Ping, Rascovsky, Katya, Wolf, Amelia, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christine, Coppola, Giovanni, Dickerson, Bradford C., Dickinson, Susan, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gearhart, Debra J., Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill R., Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Gingyuek, Huey, Edward D., Irwin, David J., Jones, David T., Kantarci, Kejal, Karydas, Anna M., Kaufer, Daniel, Kerwin, Diana, Knopman, David S., Kramer, Joel H., Kraft, Ruth, Kremers, Walter, Kukull, Walter, Lapid, Maria I., Litvan, Irene, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily C., Mendez, Mario F., Miller, Bruce L., Onyike, Chiadi, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeleine, Rademakers, Rosa, Ramos, Eliana M., Rankin, Katherine P., 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, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., Rosen, Howard J.
Publicado 2020

Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration

por Rojas, Julio C., Wang, Ping, Staffaroni, Adam M., Heller, Carolin, Cobigo, Yann, Wolf, Amy, Goh, Sheng-Yang M., Ljubenkov, Peter A., Heuer, Hilary W., Fong, Jamie C., Taylor, Joanne B., Veras, Eliseo, Song, Linan, Jeromin, Andreas, Hanlon, David, Yu, Lili, Khinikar, Arvind, Sivasankaran, Rajeev, Kieloch, Agnieszka, Valentin, Marie-Anne, Karydas, Anna M., Mitic, Laura L., Pearlman, Rodney, Kornak, John, Kramer, Joel H., Miller, Bruce L., Kantarci, Kejal, Knopman, David S., Graff-Radford, Neill, Petrucelli, Leonard, Rademakers, Rosa, Irwin, David J., Grossman, Murray, Ramos, Eliana Marisa, Coppola, Giovanni, Mendez, Mario F., Bordelon, Yvette, Dickerson, Bradford C., Ghoshal, Nupur, Huey, Edward D., Mackenzie, Ian R., Appleby, Brian S., Domoto-Reilly, Kimiko, Hsiung, Ging-Yuek R., Toga, Arthur W., Weintraub, Sandra, Kaufer, Daniel I., Kerwin, Diana, Litvan, Irene, Onyike, Chiadikaobi U., Pantelyat, Alexander, Roberson, Erik D., Tartaglia, Maria C., Foroud, Tatiana, Chen, Weiping, Czerkowicz, Julie, Graham, Danielle L., van Swieten, John C., Borroni, Barbara, Sanchez-Valle, Raquel, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Rowe, James B., Masellis, Mario, Finger, Elizabeth, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris R., Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Sorbi, Sandro, Cash, David M., Convery, Rhian S., Bocchetta, Martina, Foiani, Martha, Greaves, Caroline V., Peakman, Georgia, Russell, Lucy, Swift, Imogen, Todd, Emily, Rohrer, Jonathan D., Boeve, Bradley F., Rosen, Howard J., Boxer, Adam L.
Publicado 2021