Molecular Mechanisms of Neurodegenerative Diseases

Displaying 1 - 22 of 22CSV
Guo, M. H., Lee, W., Vardarajan, B. N., Schellenberg, G. D., & Phillips‐Cremins, J. E. (2024). Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease. Alzheimer’s & Dementia, 20(S1). Portico. https://doi.org/10.1002/alz.089952
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Zammit, A. R., Wang, T., Yu, L., Oveisgharan, S., Jager, P. L. D., Petyuk, V. A., Bennett, D. A., & Buchman, A. S. (2024). Temporal dynamic effects of cortical resilience proteins on trajectories of cognitive aging. Alzheimer’s & Dementia, 20(S2). Portico. https://doi.org/10.1002/alz.089162
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Kumar, A., Matulis, K. L., Fadel, Z. A., Fanning, A. S., Amlang, C. J., & Kuo, S.-H. (2024). Effects of Low-Frequency Deep Brain Stimulation in Bilateral Zona Incerta for a Patient With Tremor and Cerebellar Ataxia. Tremor and Other Hyperkinetic Movements, 14, 42. https://doi.org/10.5334/tohm.925
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Paryani, F., Kwon, J.-S., Ng, C. W., Jakubiak, K., Madden, N., Ofori, K., Tang, A., Lu, H., Xia, S., Li, J., Mahajan, A., Davidson, S. M., Basile, A. O., McHugh, C., Vonsattel, J. P., Hickman, R., Zody, M. C., Housman, D. E., Goldman, J. E., … Al-Dalahmah, O. (2024). Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50626-0
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Sajid, S., Galfalvy, H. C., Keilp, J. G., Burke, A. K., Mann, J. J., & Grunebaum, M. F. (2024). Acute Dissociation and Ketamine’s Antidepressant and Anti-Suicidal Ideation Effects in a Midazolam-Controlled Trial. International Journal of Neuropsychopharmacology, 27(4). https://doi.org/10.1093/ijnp/pyae017
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Walitt, B., Singh, K., LaMunion, S. R., Hallett, M., Jacobson, S., Chen, K., Enose-Akahata, Y., Apps, R., Barb, J. J., Bedard, P., Brychta, R. J., Buckley, A. W., Burbelo, P. D., Calco, B., Cathay, B., Chen, L., Chigurupati, S., Chen, J., … Cheung, F. (2024). Deep phenotyping of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-45107-3
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Chen, T. X., Casey, H. L., Lin, C.-Y. R., Boyle, T. A., Schmahmann, J. D., L’Italien, G. J., Kuo, S.-H., & Gomez, C. M. (2024). Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression. The Cerebellum, 23(4), 1449–1456. https://doi.org/10.1007/s12311-023-01655-w
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Kowanda, M., Calakos, K., Snyder, L. G., Kentros, C., Bain, J., Srivastava, S., Sands, T., Schratt, G., Taylor, C., & Chung, W. (2024). P152: Seizure severity across neurogenetic conditions in Simons Searchlight*. Genetics in Medicine Open, 2, 101049. https://doi.org/10.1016/j.gimo.2024.101049
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Shamanskiy, V., Mikhailova, A. A., Tretiakov, E. O., Ushakova, K., Mikhailova, A. G., Oreshkov, S., Knorre, D. A., Ree, N., Overdevest, J. B., Lukowski, S. W., Gostimskaya, I., Yurov, V., Liou, C.-W., Lin, T.-K., Kunz, W. S., Reymond, A., Mazunin, I., Bazykin, G. A., Fellay, J., … Popadin, K. (2023). Secondary structure of the human mitochondrial genome affects formation of deletions. BMC Biology, 21(1). https://doi.org/10.1186/s12915-023-01606-1
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Goldman, J. S., Uhlmann, W. R., Naini, A. B., Klitzman, R. L., & Marder, K. S. (2023). Genetic Testing of HTT Modifiers for Huntington’s Disease: Considerations for Clinical Guidelines. Movement Disorders, 38(12), 2151–2154. Portico. https://doi.org/10.1002/mds.29650
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Lee, A. J., Klein, H., Schneider, J. A., Bennett, D. A., De Jager, P. L., Narzisi, G., Zody, M., & Vardarajan, B. N. (2023). Association of short tandem repeats with neuropathological features in late‐onset of Alzheimer’s disease brains. Alzheimer’s & Dementia, 19(S1). Portico. https://doi.org/10.1002/alz.066552
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Hirsch, Y., Chung, W. K., Novoselov, S., Weimer, L. H., Rossor, A., LeDuc, C. A., McPartland, A. J., Cabrera, E., Ekstein, J., Scher, S., Nelson, R. F., Schiavo, G., Henderson, L. B., & Booth, K. T. A. (2023). Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International Journal of Molecular Sciences, 24(10), 8897. https://doi.org/10.3390/ijms24108897
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Lin, C. R., Amokrane, N., Chen, S., Chen, T. X., Lai, R., Trinh, P., Minyetty, M. J., Emmerich, H., Pan, M., Claassen, D. O., & Kuo, S. (2022). Cerebellar impulsivity–compulsivity assessment scale. Annals of Clinical and Translational Neurology, 10(1), 48–57. Portico. https://doi.org/10.1002/acn3.51698
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Hickman, R. A., Faust, P. L., Marder, K., Yamamoto, A., & Vonsattel, J.-P. (2022). The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade. Acta Neuropathologica Communications, 10(1). https://doi.org/10.1186/s40478-022-01364-1
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Avisar, H., Guardia-Laguarta, C., Surface, M., Papagiannakis, N., Maniati, M., Antonellou, R., Papadimitriou, D., Koros, C., Athanassiadou, A., Przedborski, S., Lerner, B., Stefanis, L., Area-Gomez, E., & Alcalay, R. N. (2022). Lipid level alteration in human and cellular models of alpha synuclein mutations. Npj Parkinson’s Disease, 8(1). https://doi.org/10.1038/s41531-022-00313-y
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Cheng, F., Zheng, W., Barbuti, P. A., Bonsi, P., Liu, C., Casadei, N., Ponterio, G., Meringolo, M., Admard, J., Dording, C. M., Yu-Taeger, L., Nguyen, H. P., Grundmann-Hauser, K., Ott, T., Houlden, H., Pisani, A., Krüger, R., & Riess, O. (2022). DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. Brain, 145(11), 3968–3984. https://doi.org/10.1093/brain/awac001
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Bloomfield-Clagett, B., Ballard, E. D., Greenstein, D. K., Wilkinson, S. T., Grunebaum, M. F., Murrough, J. W., Mathew, S. J., Phillips, J. L., Fava, M., Sanacora, G., & Zarate, C. A. (2022). A Participant-Level Integrative Data Analysis of Differential Placebo Response for Suicidal Ideation and Nonsuicidal Depressive Symptoms in Clinical Trials of Intravenous Racemic Ketamine. International Journal of Neuropsychopharmacology, 25(10), 827–838. https://doi.org/10.1093/ijnp/pyac055
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Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119
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Du, W., Bain, P. G., Defazio, G., Jankovic, J., Kim, C. Y., Tan, E. K., Vidailhet, M., & Louis, E. D. (2022). The Conundrum of Dystonia in Essential Tremor Patients: How does One Classify these Cases? Tremor and Other Hyperkinetic Movements, 12(1). https://doi.org/10.5334/tohm.690
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