Parkinson Disease

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Williams, G. P., Freuchet, A., Michaelis, T., Frazier, A., Tran, N. K., Rodrigues Lima-Junior, J., Phillips, E. J., Mallal, S. A., Litvan, I., Goldman, J. G., Alcalay, R. N., Sidney, J., Sulzer, D., Sette, A., & Lindestam Arlehamn, C. S. (2024). PINK1 is a target of T cell responses in Parkinson’s disease. Journal of Clinical Investigation. https://doi.org/10.1172/jci180478
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Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Orr-Urtreger, A., & Goldstein, O. (2024). P2RX7, an adaptive immune response gene, is associated with Parkinson’s disease risk and age at onset. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241296015
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Jones-Tabah, J., He, K., Karpilovsky, N., Senkevich, K., Deyab, G., Pietrantonio, I., Goiran, T., Cousineau, Y., Nikanorova, D., Goldsmith, T., del Cid Pellitero, E., Chen, C. X.-Q., Luo, W., You, Z., Abdian, N., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., … Fon, E. A. (2024). The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00779-9
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Curtis, J. A., Borders, J. C., Kiefer, B., Alcalay, R. N., Huber, J. E., & Troche, M. S. (2024). Respiratory–Swallow Coordination and Its Relationship With Pharyngeal Residue, Penetration, and Aspiration in People With Parkinson’s Disease. Journal of Speech, Language, and Hearing Research, 67(11), 4314–4338. https://doi.org/10.1044/2024_jslhr-24-00056
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Gallagher, J., Gochanour, C., Caspell-Garcia, C., Dobkin, R. D., Aarsland, D., Alcalay, R. N., Barrett, M. J., Chahine, L., Chen-Plotkin, A. S., Coffey, C. S., Dahodwala, N., Eberling, J. L., Espay, A. J., Leverenz, J. B., Litvan, I., Mamikonyan, E., Morley, J., Richard, I. H., Rosenthal, L., … Razzaque, J. (2024). Long-Term Dementia Risk in Parkinson Disease. Neurology, 103(5). https://doi.org/10.1212/wnl.0000000000209699
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Parrish, R. L., Buchman, A. S., Tasaki, S., Wang, Y., Avey, D., Xu, J., De Jager, P. L., Bennett, D. A., Epstein, M. P., & Yang, J. (2024). SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50983-w
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Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Foroud, T., Hall, A., Marder, K. S., Mata, I. F., Mencacci, N. E., Nance, M. A., Schwarzschild, M. A., Simuni, T., Bressman, S., Wills, A.-M., Fernandez, H. H., Litvan, I., Lyons, K. E., Shill, H. A., Singer, C., … Alcalay, R. N. (2024). Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study. Brain, 147(8), 2668–2679. https://doi.org/10.1093/brain/awae142
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Zhao, Y., Lai, Y., Konijnenberg, H., Huerta, J. M., Vinagre-Aragon, A., Sabin, J. A., Hansen, J., Petrova, D., Sacerdote, C., Zamora-Ros, R., Pala, V., Heath, A. K., Panico, S., Guevara, M., Masala, G., Lill, C. M., Miller, G. W., Peters, S., & Vermeulen, R. (2024). Association of Coffee Consumption and Prediagnostic Caffeine Metabolites With Incident Parkinson Disease in a Population-Based Cohort. Neurology, 102(8). https://doi.org/10.1212/wnl.0000000000209201
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Tuncer, T., Dogan, S., Baygin, M., Barua, P. D., Palmer, E. E., March, S., Ciaccio, E. J., Tan, R.-S., & Acharya, U. R. (2024). FLP: Factor lattice pattern-based automated detection of Parkinson’s disease and specific language impairment using recorded speech. Computers in Biology and Medicine, 173, 108280. https://doi.org/10.1016/j.compbiomed.2024.108280
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Alessi, D. R., Cullen, P. J., Cookson, M., Merchant, K. M., & Small, S. A. (2024). Retromer-dependent lysosomal stress in Parkinson’s disease. Philosophical Transactions of the Royal Society B: Biological Sciences, 379(1899). https://doi.org/10.1098/rstb.2022.0376
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Adkins-Jackson, P. B., Taikeff, N., Akingbulu, J., Avila-Rieger, J. F., & Corona-Long, C. A. (2024). Parkinson’s Disease Inequities in Daily Cognitive Activities: An Intersectional Approach. Ethnicity & Disease, 34(2), 113–122. https://doi.org/10.18865/ed.34.2.113
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Wang, Q., & Wang, Y. (2022). Multilayer Exponential Family Factor models for integrative analysis and learning disease progression. Biostatistics, 25(1), 203–219. https://doi.org/10.1093/biostatistics/kxac042
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Keavney, J. L., Mathur, S., Schroeder, K., Merrell, R., Castillo-Torres, S. A., Gao, V., Crotty, G. F., Schwarzschild, M. A., & Poma, J. M. (2024). Perspectives of People At-Risk on Parkinson’s Prevention Research. Journal of Parkinson’s Disease, 14(3), 399–414. https://doi.org/10.3233/jpd-230436
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Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Goldstein, O., & Orr-Urtreger, A. (2023). MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes, 15(1), 46. https://doi.org/10.3390/genes15010046
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Fernandez, H. H., Macklin, E. A., Hauser, R. A., Chou, K. L., Cakmak, Y. O., Ozsoy, B., & Fahn, S. (2024). Intrinsic auricular muscle zone stimulation for Parkinson disease: The EARSTIM-PD Phase II multi-center pilot study results. Parkinsonism & Related Disorders, 121, 105959. https://doi.org/10.1016/j.parkreldis.2023.105959
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Kipnis, D., Pacheco, A., Delfing, D., Toomer-Mensah, N., Macpherson, C. E., Rieger, J., Parker, A., Coley, R. B., Coley, D., Shah, H., & Quinn, L. (2024). Community-based participatory research approach to address healthcare disparities confronting members of the Black Diaspora with Parkinson’s disease. Parkinsonism & Related Disorders, 119, 105936. https://doi.org/10.1016/j.parkreldis.2023.105936
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Wang, Q., Tao, S., Xing, L., Liu, J., Xu, C., Xu, X., Ding, H., Shen, Q., Yu, X., & Zheng, Y. (2023). SNAP25 is a potential target for early stage Alzheimer’s disease and Parkinson’s disease. European Journal of Medical Research, 28(1). https://doi.org/10.1186/s40001-023-01360-8
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Zhao, Y., Walker, D. I., Lill, C. M., Bloem, B. R., Darweesh, S. K. L., Pinto-Pacheco, B., McNeil, B., Miller, G. W., Heath, A. K., Frissen, M., Petrova, D., Sánchez, M.-J., Chirlaque, M.-D., Guevara, M., Zibetti, M., Panico, S., Middleton, L., Katzke, V., Kaaks, R., … Vermeulen, R. (2023). Lipopolysaccharide-binding protein and future Parkinson’s disease risk: a European prospective cohort. Journal of Neuroinflammation, 20(1). https://doi.org/10.1186/s12974-023-02846-2
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Boruah, A. P., Thakur, K. T., Gadani, S. P., Kothari, K. U., Chomba, M., Guekht, A., Heydari, K., Hoo, F. K., Hwang, S., Michael, B. D., Pandit, M. V., Pardo, C. A., Prasad, K., Sardar, Z., Seeher, K., Solomon, T., Winkler, A. S., Wood, G. K., & Schiess, N. (2023). Pre-existing neurological conditions and COVID-19 co-infection: Data from systematic reviews, meta-analyses, and scoping reviews. Journal of the Neurological Sciences, 455, 120858. https://doi.org/10.1016/j.jns.2023.120858
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Garretti, F., Monahan, C., Sloan, N., Bergen, J., Shahriar, S., Kim, S. W., Sette, A., Cutforth, T., Kanter, E., Agalliu, D., & Sulzer, D. (2023). Interaction of an α-synuclein epitope with HLA-DRB1∗15:01 triggers enteric features in mice reminiscent of prodromal Parkinson’s disease. Neuron, 111(21), 3397-3413.e5. https://doi.org/10.1016/j.neuron.2023.07.015
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Sun, J., Ludvigsson, J. F., Roelstraete, B., Pedersen, N. L., Pawitan, Y., Wirdefeldt, K., & Fang, F. (2022). Gastrointestinal biopsy of normal mucosa or nonspecific inflammation and risk of neurodegenerative disease: Nationwide matched cohort study. European Journal of Neurology, 30(11), 3430–3439. Portico. https://doi.org/10.1111/ene.15654
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Senkevich, K., Beletskaia, M., Dworkind, A., Yu, E., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin‐Baer, S., Nagornov, I., Tyurin, A., Miliukhina, I., Timofeeva, A., … Gan‐Or, Z. (2023). Association of Rare Variants in ARSA with Parkinson’s Disease. Movement Disorders, 38(10), 1806–1812. Portico. https://doi.org/10.1002/mds.29521
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Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Beck, J. C., Naito, A., Hall, A., Chan, A. K., Casaceli, C. J., Marder, K., Nance, M., Schwarzschild, M. A., Simuni, T., Wills, A.-M., & Alcalay, R. N. (2023). Providing genetic testing and genetic counseling for Parkinson’s disease to the community. Genetics in Medicine, 25(10), 100907. https://doi.org/10.1016/j.gim.2023.100907
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Qi, R., Sammler, E., Gonzalez-Hunt, C. P., Barraza, I., Pena, N., Rouanet, J. P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K. I., Weinstein, A. M., Lutz, M. W., Kwok, J. B., Halliday, G. M., Dzamko, N., Padmanabhan, S., Alcalay, R. N., Waters, C., … Sanders, L. H. (2023). A blood-based marker of mitochondrial DNA damage in Parkinson’s disease. Science Translational Medicine, 15(711). https://doi.org/10.1126/scitranslmed.abo1557
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Le Guen, Y., Luo, G., Ambati, A., Damotte, V., Jansen, I., Yu, E., Nicolas, A., de Rojas, I., Peixoto Leal, T., Miyashita, A., Bellenguez, C., Lian, M. M., Parveen, K., Morizono, T., Park, H., Grenier-Boley, B., Naito, T., Küçükali, F., Talyansky, S. D., … Tan, E.-K. (2023). Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences, 120(36). https://doi.org/10.1073/pnas.2302720120
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Di Maio, A., Nuzzo, T., Gilio, L., Serra, M., Buttari, F., Errico, F., De Rosa, A., Bassi, M. S., Morelli, M., Sasabe, J., Sulzer, D., Carta, M., Centonze, D., & Usiello, A. (2023). Homeostasis of serine enantiomers is disrupted in the post-mortem caudate putamen and cerebrospinal fluid of living Parkinson’s disease patients. Neurobiology of Disease, 184, 106203. https://doi.org/10.1016/j.nbd.2023.106203
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Giladi, N., Alcalay, R. N., Cutter, G., Gasser, T., Gurevich, T., Höglinger, G. U., Marek, K., Pacchetti, C., Schapira, A. H. V., Scherzer, C. R., Simuni, T., Minini, P., Sardi, S. P., & Peterschmitt, M. J. (2023). Safety and efficacy of venglustat in GBA1-associated Parkinson’s disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. The Lancet Neurology, 22(8), 661–671. https://doi.org/10.1016/s1474-4422(23)00205-3
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Saunders‐Pullman, R., Raymond, D., Ortega, R. A., Shalash, A., Gatto, E., Salari, M., Markgraf, M., Alcalay, R. N., Mascalzoni, D., Mencacci, N. E., Bonifati, V., Merello, M., Chung, S. J., Novakovic, I., Bardien, S., Pal, G., Hall, A., Hattori, N., Lynch, T., … Simuni, T. (2023). International Genetic Testing and Counseling Practices for Parkinson’s Disease. Movement Disorders, 38(8), 1527–1535. Portico. https://doi.org/10.1002/mds.29442
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Pal, G., Cook, L., Schulze, J., Verbrugge, J., Alcalay, R. N., Merello, M., Sue, C. M., Bardien, S., Bonifati, V., Chung, S. J., Foroud, T., Gatto, E., Hall, A., Hattori, N., Lynch, T., Marder, K., Mascalzoni, D., Novaković, I., Thaler, A., … Klein, C. (2023). Genetic Testing in Parkinson’s Disease. Movement Disorders, 38(8), 1384–1396. Portico. https://doi.org/10.1002/mds.29500
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Agin‐Liebes, J., Hickman, R. A., Vonsattel, J. P., Faust, P. L., Flowers, X., Utkina Sosunova, I., Ntiri, J., Mayeux, R., Surface, M., Marder, K., Fahn, S., Przedborski, S., & Alcalay, R. N. (2023). Patterns of TDP‐43 Deposition in Brains with LRRK2 G2019S Mutations. Movement Disorders, 38(8), 1541–1545. Portico. https://doi.org/10.1002/mds.29449
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Outeiro, T. F., Alcalay, R. N., Antonini, A., Attems, J., Bonifati, V., Cardoso, F., Chesselet, M., Hardy, J., Madeo, G., McKeith, I., Mollenhauer, B., Moore, D. J., Rascol, O., Schlossmacher, M. G., Soreq, H., Stefanis, L., & Ferreira, J. J. (2023). Defining the Riddle in Order to Solve It: There Is More Than One “Parkinson’s Disease.” Movement Disorders, 38(7), 1127–1142. Portico. https://doi.org/10.1002/mds.29419
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Shani, S., Goldstein, O., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., & Orr-Urtreger, A. (2023). Variants in PSMB9 and FGR differentially affect Parkinson’s disease risk in GBA and LRRK2 mutation carriers. Parkinsonism & Related Disorders, 111, 105398. https://doi.org/10.1016/j.parkreldis.2023.105398
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Goldstein, O., Gana-Weisz, M., Banfi, S., Nigro, V., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., & Orr-Urtreger, A. (2023). Novel variants in genes related to vesicle-mediated-transport modify Parkinson’s disease risk. Molecular Genetics and Metabolism, 139(2), 107608. https://doi.org/10.1016/j.ymgme.2023.107608
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York, M. K., & Alcalay, R. N. (2023). Enough vs. More: Neuropsychological testing is more useful than genetic testing in the baseline evaluation of Parkinson disease. Parkinsonism & Related Disorders, 111, 105403. https://doi.org/10.1016/j.parkreldis.2023.105403
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Senkevich, K., Zorca, C. E., Dworkind, A., Rudakou, U., Somerville, E., Yu, E., Ermolaev, A., Nikanorova, D., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin-Baer, S., … Gan-Or, Z. (2022). GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain, 146(5), 1859–1872. https://doi.org/10.1093/brain/awac413
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Wilkins, K. B., Kehnemouyi, Y. M., Petrucci, M. N., Anderson, R. W., Parker, J. E., Trager, M. H., Neuville, R. S., Koop, M. M., Velisar, A., Blumenfeld, Z., Quinn, E. J., & Bronte‐Stewart, H. M. (2023). Bradykinesia and Its Progression Are Related to Interhemispheric Beta Coherence. Annals of Neurology, 93(5), 1029–1039. Portico. https://doi.org/10.1002/ana.26605
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Siderowf, A., Concha-Marambio, L., Lafontant, D.-E., Farris, C. M., Ma, Y., Urenia, P. A., Nguyen, H., Alcalay, R. N., Chahine, L. M., Foroud, T., Galasko, D., Kieburtz, K., Merchant, K., Mollenhauer, B., Poston, K. L., Seibyl, J., Simuni, T., Tanner, C. M., Weintraub, D., … Soto, C. (2023). Assessment of heterogeneity among participants in the Parkinson’s Progression Markers Initiative cohort using α-synuclein seed amplification: a cross-sectional study. The Lancet Neurology, 22(5), 407–417. https://doi.org/10.1016/s1474-4422(23)00109-6
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Blauwendraat, C., Tayebi, N., Woo, E. G., Lopez, G., Fierro, L., Toffoli, M., Limbachiya, N., Hughes, D., Pitz, V., Patel, D., Vitale, D., Koretsky, M. J., Hernandez, D., Real, R., Alcalay, R. N., Nalls, M. A., Morris, H. R., Schapira, A. H. V., Balwani, M., & Sidransky, E. (2023). Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement Disorders, 38(5), 899–903. Portico. https://doi.org/10.1002/mds.29342
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Vidyadhara, D. J., Somayaji, M., Wade, N., Yücel, B., Zhao, H., Shashaank, N., Ribaudo, J., Gupta, J., Lam, T. T., Sames, D., Greene, L. E., Sulzer, D. L., & Chandra, S. S. (2023). Dopamine transporter and synaptic vesicle sorting defects underlie auxilin-associated Parkinson’s disease. Cell Reports, 42(3), 112231. https://doi.org/10.1016/j.celrep.2023.112231
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Buchman, A. S., Yu, L., Klein, H.-U., Zammit, A. R., Oveisgharan, S., Grodstein, F., Tasaki, S., Levey, A. I., Seyfried, N. T., & Bennett, D. A. (2022). Proteome-Wide Discovery of Cortical Proteins That May Provide Motor Resilience to Offset the Negative Effects of Pathologies in Older Adults. The Journals of Gerontology: Series A, 78(3), 494–503. https://doi.org/10.1093/gerona/glac105
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Louis, E. D., Martuscello, R. T., Gionco, J. T., Hartstone, W. G., Musacchio, J. B., Portenti, M., McCreary, M., Kuo, S.-H., Vonsattel, J.-P. G., & Faust, P. L. (2023). Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains. Acta Neuropathologica, 145(3), 265–283. https://doi.org/10.1007/s00401-022-02535-z
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Vollstedt, E., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., … Foroud, T. (2023). Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort. Movement Disorders, 38(2), 286–303. Portico. https://doi.org/10.1002/mds.29288
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Troche, M. S., Curtis, J. A., Sevitz, J. S., Dakin, A. E., Perry, S. E., Borders, J. C., Grande, A. A., Mou, Y., Vanegas‐Arroyave, N., & Hegland, K. W. (2022). Rehabilitating Cough Dysfunction in Parkinson’s Disease: A Randomized Controlled Trial. Movement Disorders, 38(2), 201–211. Portico. https://doi.org/10.1002/mds.29268
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Williams, G. P., Muskat, K., Frazier, A., Xu, Y., Mateus, J., Grifoni, A., da Silva Antunes, R., Weiskopf, D., Amara, A. W., Standaert, D. G., Goldman, J. G., Litvan, I., Alcalay, R. N., Sulzer, D., Lindestam Arlehamn, C. S., & Sette, A. (2023). Unaltered T cell responses to common antigens in individuals with Parkinson’s disease. Journal of the Neurological Sciences, 444, 120510. https://doi.org/10.1016/j.jns.2022.120510
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