Ngā hua rapu - Lucente, Diane

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