Glucosylceramidase

Displaying 1 - 6 of 6CSV
Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722
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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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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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Pal, G., Mangone, G., Hill, E. J., Ouyang, B., Liu, Y., Lythe, V., Ehrlich, D., Saunders‐Pullman, R., Shanker, V., Bressman, S., Alcalay, R. N., Garcia, P., Marder, K. S., Aasly, J., Mouradian, M. M., Link, S., Rosenbaum, M., Anderson, S., Bernard, B., … Goetz, C. G. (2022). Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers. Annals of Neurology, 91(3), 424–435. Portico. https://doi.org/10.1002/ana.26302
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Peterschmitt, M. J., Saiki, H., Hatano, T., Gasser, T., Isaacson, S. H., Gaemers, S. J. M., Minini, P., Saubadu, S., Sharma, J., Walbillic, S., Alcalay, R. N., Cutter, G., Hattori, N., Höglinger, G. U., Marek, K., Schapira, A. H. V., Scherzer, C. R., Simuni, T., … Fischer, T. Z. (2022). Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson’s Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial. Journal of Parkinson’s Disease, 12(2), 557–570. https://doi.org/10.3233/jpd-212714
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