Výsledky vyhledávání - Lucente, Diane

Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD Autor Wong, Bonnie, Lucente, Diane, Krivensky, Samantha, Krahn, Erin, Karlawish, Jason, Dickerson, Bradford C.

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Case 9-2015: A 31-Year-Old Man with Personality Changes and Progressive Neurologic Decline Autor Miller, Bruce L., Dickerson, Bradford C., Lucente, Diane E., Larvie, Mykol, Frosch, Matthew P.

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Autor Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Autor Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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

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Diagnostic evaluation and monitoring of patients with posterior cortical atrophy Autor Wong, Bonnie, Lucente, Diane E, MacLean, Julie, Padmanabhan, Jaya, Quimby, Megan, Brandt, Katherine D, Putcha, Deepti, Sherman, Janet, Frosch, Matthew P, McGinnis, Scott, Dickerson, Bradford C

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WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 Autor Hennig, Krista M., Fass, Daniel M., Zhao, Wen-Ning, Sheridan, Steven D., Fu, Ting, Erdin, Serkan, Stortchevoi, Alexei, Lucente, Diane, Cody, Jannine D., Sweetser, David, Gusella, James F., Talkowski, Michael E., Haggarty, Stephen J.

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

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Autor Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.

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Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia Autor Seo, Jinsoo, Kritskiy, Oleg, Watson, L. Ashley, Barker, Scarlett J., Dey, Dilip, Raja, Waseem K., Lin, Yuan-Ta, Ko, Tak, Cho, Sukhee, Penney, Jay, Silva, M. Catarina, Sheridan, Steven D., Lucente, Diane, Gusella, James F., Dickerson, Bradford C., Haggarty, Stephen J., Tsai, Li-Huei

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

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Association analysis of chromosome X to identify genetic modifiers of Huntington’s disease Autor Hong, Eun Pyo, Chao, Michael J., Massey, Thomas, McAllister, Branduff, Lobanov, Sergey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Orth, Michael, Ciosi, Marc, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min

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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs Autor Jung, Roy, Lee, Yejin, Barker, Douglas, Correia, Kevin, Shin, Baehyun, Loupe, Jacob, Collins, Ryan L, Lucente, Diane, Ruliera, Jayla, Gillis, Tammy, Mysore, Jayalakshmi S, Rodan, Lance, Picker, Jonathan, Lee, Jong-Min, Howland, David, Lee, Ramee, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Seong, Ihn Sik

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway Autor Lojewski, Xenia, Staropoli, John F., Biswas-Legrand, Sunita, Simas, Alexandra M., Haliw, Larissa, Selig, Martin K., Coppel, Scott H., Goss, Kendrick A., Petcherski, Anton, Chandrachud, Uma, Sheridan, Steven D., Lucente, Diane, Sims, Katherine B., Gusella, James F., Sondhi, Dolan, Crystal, Ronald G., Reinhardt, Peter, Sterneckert, Jared, Schöler, Hans, Haggarty, Stephen J., Storch, Alexander, Hermann, Andreas, Cotman, Susan L.

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

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Pathologic correlations of [F-18]-AV-1451 imaging in non-Alzheimer tauopathies Autor Marquié, Marta, Normandin, Marc D., Meltzer, Avery C., Chong, Michael Siao Tick, Andrea, Nicolas V., Antón-Fernández, Alejandro, Klunk, William E., Mathis, Chester A., Ikonomovic, Milos D., Debnath, Manik, Bien, Elizabeth A., Vanderburg, Charles R., Costantino, Isabel, Makaretz, Sara, DeVos, Sarah L., Oakley, Derek H., Gomperts, Stephen N., Growdon, John H., Domoto-Reilly, Kimiko, Lucente, Diane, Dickerson, Bradford C., Frosch, Matthew P., Hyman, Bradley T., Johnson, Keith A., Gómez-Isla, Teresa

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

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Genetic modifiers of Huntington disease differentially influence motor and cognitive domains Autor Lee, Jong-Min, Huang, Yuan, Orth, Michael, Gillis, Tammy, Siciliano, Jacqueline, Hong, Eunpyo, Mysore, Jayalakshmi Srinidhi, Lucente, Diane, Wheeler, Vanessa C., Seong, Ihn Sik, McLean, Zachariah L., Mills, James A., McAllister, Branduff, Lobanov, Sergey V., Massey, Thomas H., Ciosi, Marc, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Sampaio, Cristina, Monckton, Darren G., Kwak, Seung, Holmans, Peter, Jones, Lesley, MacDonald, Marcy E., Long, Jeffrey D., Gusella, James F.

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries Autor Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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

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