Canlyniadau Chwilio - Lucente, Diane

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