Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington’s disease cases

Authors: Salem, Shireen, Kilgore, Mitchell D., Anwer, Mehwish, Maxan, Alexander, Child, Dan, Bird, Thomas D., Keene, C. Dirk, Cicchetti, Francesca, Latimer, Caitlin

Source: In Neurobiology of Disease August 2024 198

Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study

Authors: Aizenstein, Howard J., Andrews, Howard F., Bell, Karen, Birn, Rasmus M., Bulova, Peter, Cheema, Amrita, Chen, Kewei, Clare, Isabel, Clark, Lorraine, Cohen, Ann D., Constantino, John N., Doran, Eric W., Feingold, Eleanor, Foroud, Tatiana M., Hartley, Sigan L., Hom, Christy, Honig, Lawrence, Ikonomovic, Milos D., Johnson, Sterling C., Jordan, Courtney, Kamboh, M. Ilyas, Keator, David, Klunk, William E., Kofler, Julia K., Kreisl, William C., Krinsky-McHale, Sharon J., Lao, Patrick, Laymon, Charles, Lott, Ira T., Lupson, Victoria, Mathis, Chester A., Minhas, Davneet S., Nadkarni, Neelesh, Pang, Deborah, Petersen, Melissa, Price, Julie C., Pulsifer, Margaret, Reiman, Eric, Rizvi, Batool, Sabbagh, Marwan N., Schupf, Nicole, Tudorascu, Dana L., Tumuluru, Rameshwari, Tycko, Benjamin, Varadarajan, Badri, White, Desiree A., Yassa, Michael A., Zaman, Shahid, Zhang, Fan, Bateman, Randall, Daniels, Alisha J., Courtney, Laura, McDade, Eric, Llibre-Guerra, Jorge J., Supnet-Bell, Charlene, Xiong, Chengie, Xu, Xiong, Lu, Ruijin, Wang, Guoqiao, Li, Yan, Gremminger, Emily, Perrin, Richard J., Franklin, Erin, Ibanez, Laura, Jerome, Gina, Herries, Elizabeth, Stauber, Jennifer, Baker, Bryce, Minton, Matthew, Cruchaga, Carlos, Goate, Alison M., Renton, Alan E., Picarello, Danielle M., Benzinger, Tammie, Gordon, Brian A., Hornbeck, Russall, Hassenstab, Jason, Smith, Jennifer, Stout, Sarah, Aschenbrenner, Andrew J., Karch, Celeste M., Marsh, Jacob, Morris, John C., Holtzman, David M., Barthelemy, Nicolas, Xu, Jinbin, Noble, James M., Berman, Sarah B., Ikonomovic, Snezana, Nadkarni, Neelesh K., Day, Gregory, Graff-Radford, Neill R., Farlow, Martin, Chhatwal, Jasmeer P., Ikeuchi, Takeshi, Kasuga, Kensaku, Niimi, Yoshiki, Huey, Edward D., Salloway, Stephen, Schofield, Peter R., Brooks, William S., Bechara, Jacob A., Martins, Ralph, Fox, Nick C., Cash, David M., Ryan, Natalie S., Jucker, Mathias, Laske, Christoph, Hofmann, Anna, Kuder-Buletta, Elke, Graber-Sultan, Susanne, Obermueller, Ulrike, Levin, Johannes, Roedenbeck, Yvonne, Vöglein, Jonathan, Lee, Jae-Hong, Roh, Jee Hoon, Sanchez-Valle, Raquel, Rosa-Neto, Pedro, Allegri, Ricardo F., Chrem Mendez, Patricio, Surace, Ezequiel, Vazquez, Silvia, Lopera, Francisco, Leon, Yudy Milena, Ramirez, Laura, Aguillon, David, Levey, Allan I., Johnson, Erik C.B, Seyfried, Nicholas T., Ringman, John, Mori, Hiroshi, Wisch, Julie K ^*, McKay, Nicole S, Boerwinkle, Anna H, Kennedy, James, Flores, Shaney, Handen, Benjamin L, Christian, Bradley T, Head, Elizabeth, Mapstone, Mark, Rafii, Michael S, O’Bryant, Sid E, Price, Julie C, Laymon, Charles M, Krinsky-McHale, Sharon J, Lai, Florence, Rosas, H Diana, Hartley, Sigan L, Lott, Ira T, Tudorascu, Dana, Zammit, Matthew, Brickman, Adam M, Lee, Joseph H, Bird, Thomas D, Cohen, Annie, Chrem, Patricio, Daniels, Alisha, Chhatwal, Jasmeer P, Karch, Celeste M, Day, Gregory S, Llibre-Guerra, Jorge, Ringman, John M, van Dyck, Christopher H, Xiong, Chengjie, Morris, John C, Bateman, Randall J, Benzinger, Tammie L S, Gordon, Brian A ^*, Ances, Beau M ^*

Source: In The Lancet Neurology May 2024 23(5):500-510

Aβ and tau prions feature in the neuropathogenesis of Down syndrome

Authors: Condello, Carlo, Maxwell, Alison M., Castillo, Erika, Aoyagi, Atsushi, Graff, Caroline, Ingelsson, Martin, Lannfelt, Lars, Bird, Thomas D., Keene, C. Dirk, Seeley, William W., Perl, Daniel P., Head, Elizabeth, Prusiner, Stanley B.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Nov . 119(46), 1-10.

Access URL: https://www.jstor.org/stable/27209380

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

Authors: Korvatska, Olena, Bucks, Stephanie A., Yoda, Rebecca A., Nolan, Amber, Dorschner, Michael O., Tsuang, Debby, Jayadev, Suman, Raskind, Wendy H., Bird, Thomas D.

Source: In Journal of the Neurological Sciences 15 September 2023 452

Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A‐related spastic ataxia

Authors: Sytsma, Trevor M., Chen, Dong‐Hui, Rolf, Bradley, Dorschner, Michael, Jayadev, Suman, Keene, C. Dirk, Zhang, Jing, Bird, Thomas D., Latimer, Caitlin S.

Source: Neuropathology. 42(1):58-65

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139827884.0x000001&indx=1&recIds=ETOCvdc_100139827884.0x000001

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations

Authors: Edelman, William C., Kiianitsa, Kostantin, Virmani, Tuhin, Martinez, Refugio A., Young, Jessica E., Keene, C. Dirk, Bird, Thomas D., Raskind, Wendy H., Korvatska, Olena

Source: Parkinsonism & related disorders. 101:31-38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168725446.0x000001&indx=1&recIds=ETOCvdc_100168725446.0x000001

Amyloid‐Related Imaging Abnormalities in the DIAN‐TU‐001 Trial of Gantenerumab and Solanezumab: Lessons from a Trial in Dominantly Inherited Alzheimer Disease

Authors: Joseph‐Mathurin, Nelly, Llibre‐Guerra, Jorge J., Li, Yan, McCullough, Austin A., Hofmann, Carsten, Wojtowicz, Jakub, Park, Ethan, Wang, Guoqiao, Preboske, Gregory M., Wang, Qing, Gordon, Brian A., Chen, Charles D., Flores, Shaney, Aggarwal, Neelum T., Berman, Sarah B., Bird, Thomas D., Black, Sandra E., Borowski, Bret, Brooks, William S., Chhatwal, Jasmeer P., Clarnette, Roger, Cruchaga, Carlos, Fagan, Anne M., Farlow, Martin, Fox, Nick C., Gauthier, Serge, Hassenstab, Jason, Hobbs, Diana A., Holdridge, Karen C., Honig, Lawrence S., Hornbeck, Russ C., Hsiung, Ging‐Yuek R., Jack, Clifford R., Jimenez‐Velazquez, Ivonne Z., Jucker, Mathias, Klein, Gregory, Levin, Johannes, Mancini, Michele, Masellis, Mario, McKay, Nicole S., Mummery, Catherine J., Ringman, John M., Shimada, Hiroyuki, Snider, B. Joy, Suzuki, Kazushi, Wallon, David, Xiong, Chengjie, Yaari, Roy, McDade, Eric, Perrin, Richard J., Bateman, Randall J., Salloway, Stephen P., Benzinger, Tammie L.S., Clifford, David B.

Source: Annals of neurology. 92(5):729-744

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163104079.0x000001&indx=1&recIds=ETOCvdc_100163104079.0x000001

Neuropathological correlates of vulnerability and resilience in the cerebellum in Alzheimer's disease.

Authors: Samstag, Colby L., Chapman, Nicola H., Gibbons, Laura E., Geller, Julianne, Loeb, Nicholas, Dharap, Siddhant, Yagi, Mayumi, Cook, David G., Pagulayan, Kathleen F., Crane, Paul K., Larson, Eric B., Wijsman, Ellen M., Latimer, Caitlin S., Bird, Thomas D., Keene, C. Dirk, Carlson, Erik S.

Source: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; 2/1/2025, Vol. 21 Issue 2, p1-16, 16p

Tau filaments with the Alzheimer fold in human MAPTmutants V337M and R406W

Authors: Qi, Chao, Lövestam, Sofia, Murzin, Alexey G., Peak-Chew, Sew, Franco, Catarina, Bogdani, Marika, Latimer, Caitlin, Murrell, Jill R., Cullinane, Patrick W., Jaunmuktane, Zane, Bird, Thomas D., Ghetti, Bernardino, Scheres, Sjors H. W., Goedert, Michel

Source: Nature Structural and Molecular Biology; 20250101, Issue: Preprints p1-8, 8p

Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression

Authors: Zahniser, Evan, Bird, Thomas D, Chen, Dong-Hui, Hu, Shu-Ching, Raskind, Wendy H, Trittschuh, Emily H

Source: Archives of clinical neuropsychology. 37(1):217-225

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152795083.0x000001&indx=1&recIds=ETOCvdc_100152795083.0x000001

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Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington

Authors: Gay, Elizabeth A., Byers, Peter H., Bennett, Robin L., Bird, Thomas D., Hisama, Fuki M.

Source: In Genetics in Medicine June 2019 21(6):1457-1461

Muscular dystrophy

Authors: Sumi, S. Mark

Contributors: Bird, Thomas D.

File Description: text

Availability: https://www.accessscience.com/content/article/a440100

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants

Authors: Ma, Maxwell T., Chen, Dong-Hui, Raskind, Wendy H., Bird, Thomas D.

Source: NEUROMUSCULAR DISORDERS. 30(7):572-575

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117093258.0x000001&indx=1&recIds=ETOCvdc_100117093258.0x000001

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia

Authors: Chen, Dong‐Hui, Latimer, Caitlin S., Spencer, Min, Karna, Prasanthi, Gonzalez‐Cuyar, Luis F., Davis, Marie Y., Keene, C. Dirk, Bird, Thomas D., Raskind, Wendy H.

Source: Movement disorders clinical practice. 7(1):70-77

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108180226.0x000001&indx=1&recIds=ETOCvdc_100108180226.0x000001

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Authors: Kiianitsa, Kostantin¹, Lukes, Maria E², Hayes, Brian J³, Brutman, Julianna N², Valdmanis, Paul N², Bird, Thomas D^4,5, Raskind, Wendy H^2,6, Korvatska, Olena¹, ok5@uw.edu

Source: Brain: A Journal of Neurology; Jul2024, Vol. 147 Issue 7, p2368-2383, 16p

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

Authors: Braggin, Jacquelyn E., Bucks, Stephanie A., Course, Meredith M., Smith, Carole L., Sopher, Bryce, Osnis, Leah, Shuey, Kiel D., Domoto‐Reilly, Kimiko, Caso, Christina, Kinoshita, Chizuru, Scherpelz, Kathryn P., Cross, Chloe, Grabowski, Thomas, Nik, Seyyed H. M., Newman, Morgan, Garden, Gwenn A., Leverenz, James B., Tsuang, Debby, Latimer, Caitlin, Gonzalez‐Cuyar, Luis F., Keene, Christopher Dirk, Morrison, Richard S., Rhoads, Kristoffer, Wijsman, Ellen M., Dorschner, Michael O., Lardelli, Michael, Young, Jessica E., Valdmanis, Paul N., Bird, Thomas D., Jayadev, Suman

Source: Annals of clinical and translational neurology. 6(4):762-777

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083318733.0x000001&indx=1&recIds=ETOCvdc_100083318733.0x000001

Progress in Amyotrophic Lateral Sclerosis Gene Discovery

Authors: Smukowski, Samuel N., Maioli, Heather, Latimer, Caitlin S., Bird, Thomas D., Jayadev, Suman, Valdmanis, Paul N.

Source: Neurology.Genetics. 8(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153009929.0x000001&indx=1&recIds=ETOCvdc_100153009929.0x000001

Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer’s disease

Authors: Condello, Carlo, Lemmin, Thomas, Stöhr, Jan, Nick, Mimi, Wu, Yibing, Maxwell, Alison M., Watts, Joel C., Caro, Christoffer D., Oehler, Abby, Keene, C. Dirk, Bird, Thomas D., van Duinen, Sjoerd G., Lannfelt, Lars, Ingelsson, Martin, Graff, Caroline, Giles, Kurt, DeGrado, William F., Prusiner, Stanley B.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Jan . 115(4), E782-E791.

Access URL: https://www.jstor.org/stable/26506504

Incidence of cognitively defined late-onset Alzheimer's dementia subgroups from a prospective cohort study

Authors: Crane, Paul K., Trittschuh, Emily, Mukherjee, Shubhabrata, Saykin, Andrew J., Sanders, R. Elizabeth, Larson, Eric B., McCurry, Susan M., McCormick, Wayne, Bowen, James D., Grabowski, Thomas, Moore, Mackenzie, Bauman, Julianna, Gross, Alden L., Keene, C. Dirk, Bird, Thomas D., Gibbons, Laura E., Mez, Jesse

Source: In Alzheimer's & Dementia: The Journal of the Alzheimer's Association December 2017 13(12):1307-1316