Neurodegeneration with Brain Iron Accumulation

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Chahine, L. M., Lafontant, D.-E., Choi, S. H., Iwaki, H., Blauwendraat, C., Singleton, A. B., Brumm, M. C., Alcalay, R. N., Merchant, K., Nudelman, K. N. H., Dagher, A., Vo, A., Tao, Q., Venuto, C. S., Kieburtz, K., Poston, K. L., Bressman, S., Gonzalez-Latapi, P., Avants, B., … Tolosa, E. (2025). LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization. Brain Communications, 7(2). https://doi.org/10.1093/braincomms/fcaf103
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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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Shiner, T., Kavé, G., Mirelman, A., Regev, K., Piura, Y., Goldstein, O., Gana Weisz, M., Bar‐Shira, A., Gurevich, T., Orr‐Urtreger, A., Alcalay, R. N., Giladi, N., & Bregman, N. (2024). Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies. Movement Disorders. Portico. https://doi.org/10.1002/mds.30003
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Chia, R., Ray, A., Shah, Z., Ding, J., Ruffo, P., Fujita, M., Menon, V., Saez-Atienzar, S., Reho, P., Kaivola, K., Walton, R. L., Reynolds, R. H., Karra, R., Sait, S., Akcimen, F., Diez-Fairen, M., Alvarez, I., Fanciulli, A., Stefanova, N., … Scholz, S. W. (2024). Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron, 112(13), 2142-2156.e5. https://doi.org/10.1016/j.neuron.2024.04.002
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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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Schiava, M., Ikenaga, C., Topf, A., Caballero-Ávila, M., Chou, T.-F., Li, S., Wang, F., Daw, J., Stojkovic, T., Villar-Quiles, R., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Katsuno, M., Noda, S., Ito, C., Otsuka, M., Nahir, S., … Weihl, C. C. (2023). Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology Genetics, 9(5). https://doi.org/10.1212/nxg.0000000000200093
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de Vries, L. E., Jansen, P. A. M., Barcelo, C., Munro, J., Verhoef, J. M. J., Pasaje, C. F. A., Rubiano, K., Striepen, J., Abla, N., Berning, L., Bolscher, J. M., Demarta-Gatsi, C., Henderson, R. W. M., Huijs, T., Koolen, K. M. J., Tumwebaze, P. K., Yeo, T., Aguiar, A. C. C., Angulo-Barturen, I., … Dechering, K. J. (2022). Preclinical characterization and target validation of the antimalarial pantothenamide MMV693183. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-29688-5
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Hopfner, F., Tietz, A. K., Ruf, V. C., Ross, O. A., Koga, S., Dickson, D., Aguzzi, A., Attems, J., Beach, T., Beller, A., Cheshire, W. P., van Deerlin, V., Desplats, P., Deuschl, G., Duyckaerts, C., Ellinghaus, D., Evsyukov, V., Flanagan, M. E., Franke, A., … Höglinger, G. (2022). Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy. Movement Disorders, 37(10), 2110–2121. Portico. https://doi.org/10.1002/mds.29164
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Chang, A., Xiang, X., Wang, J., Lee, C., Arakhamia, T., Simjanoska, M., Wang, C., Carlomagno, Y., Zhang, G., Dhingra, S., Thierry, M., Perneel, J., Heeman, B., Forgrave, L. M., DeTure, M., DeMarco, M. L., Cook, C. N., Rademakers, R., Dickson, D. W., … Fitzpatrick, A. W. P. (2022). Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases. Cell, 185(8), 1346-1355.e15. https://doi.org/10.1016/j.cell.2022.02.026
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