Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2025). Interaction between riluzole treatment and dietary glycemic index in the disease progression of amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52294
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Larrea, D., Tamucci, K. A., Kabra, K., Velasco, K. R., Yun, T. D., Pera, M., Montesinos, J., Agrawal, R. R., Paradas, C., Smerdon, J. W., Lowry, E. R., Stepanova, A., Yoval-Sanchez, B., Galkin, A., Wichterle, H., & Area-Gomez, E. (2025). Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS). Nature Communications, 16(1). https://doi.org/10.1038/s41467-024-51578-1
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Vargas‐Gonzalez, J., Dimal, N., Cortez, K., Heuer, H., Forsberg, L. K., Appleby, B. S., Barmada, S., Bozoki, A., Clark, D., Cobigo, Y., Darby, R. R., Dickerson, B. C., Domoto‐Reilly, K., Galasko, D. R., Geschwind, D. H., Ghoshal, N., Graff‐Radford, N. R., Grant, I. M., … Irwin, D. (2024). Psychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementia. Alzheimer’s & Dementia. Portico. https://doi.org/10.1002/alz.14448
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Kumara, H. S., Hedjar, Y., Mitra, N., Miyagaki, H., Yan, X., Cekic, V., & Whelan, R. L. (2024). Plasma levels of progranulin, a tumorigenic protein, are persistently elevated during the first month after minimally invasive colorectal cancer resection. Journal of Gastrointestinal Oncology, 15(5), 2157–2165. https://doi.org/10.21037/jgo-24-114
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Banack, S. A., Dunlop, R. A., Mehta, P., Mitsumoto, H., Wood, S. P., Han, M., & Cox, P. A. (2024). A microRNA diagnostic biomarker for amyotrophic lateral sclerosis. Brain Communications, 6(5). https://doi.org/10.1093/braincomms/fcae268
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Yanagihashi, M., Hirayama, T., Shibukawa, M., Nagasawa, J., Fujita, K., Izumi, Y., Morita, M., Bokuda, K., Takahashi, K., Kanai, K., Atsuta, N., Iguchi, Y., Katsuno, M., Murakami, Y., Mitsumoto, H., & Kano, O. (2024). Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale. BMC Neurology, 24(1). https://doi.org/10.1186/s12883-024-03729-6
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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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Pottinger, T. D., Motelow, J. E., Povysil, G., Moreno, C. A. M., Ren, Z., Phatnani, H., Harms, M. B., Kwan, J., Sareen, D., Wang, H.-I., Broach, J. R., Simmons, Z., Arcila-Londono, X., Parrott, S., Lee, E. B., Parrott, S., Deerlin, V. M. V., Fraenkel, E., … Ostrow, L. W. (2024). Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-024-10538-1
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Kumbier, K., Roth, M., Li, Z., Lazzari-Dean, J., Waters, C., Hammerlindl, S., Rinaldi, C., Huang, P., Korobeynikov, V. A., Phatnani, H., Shneider, N., Jacobson, M. P., Wu, L. F., & Altschuler, S. J. (2024). Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts. Developmental Cell. https://doi.org/10.1016/j.devcel.2024.05.011
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Hofmann, A., Haesler, L. M., Preische, O., Gräber‐Sultan, S., Obermüller, U., Vöglein, J., Levin, J., Laske, C., Fitzpatrick, C. D., Levin, R., Joseph‐Mathurin, N., Chen, C. D., Cruchaga, C., Goate, A., Allegri, R. F., Benzinger, T. L. S., Berman, S., Chui, H. C., Fagan, A. M., … Schultz, S. A. (2023). Refinement of Neurofilament light Dynamics in CSF and Blood for familial Alzheimer’s Disease. Alzheimer’s & Dementia, 19(S14). Portico. https://doi.org/10.1002/alz.078802
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Mitsumoto, H., Cheung, K., Oskarsson, B., Andrews, H. F., Jang, G. E., Andrews, J. A., Shah, J. S., Fernandes, J. A., McElhiney, M., & Santella, R. M. (2023). Randomized double-blind personalized N-of-1 clinical trial to test the safety and potential efficacy of TJ-68 for treating muscle cramps in amyotrophic lateral sclerosis (ALS): study protocol for a TJ-68 trial. Trials, 24(1). https://doi.org/10.1186/s13063-023-07424-8
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Contreras, A. G., Walters, S., Mukherjee, S., Lee, M. L., Choi, S., Scollard, P., Trittschuh, E. H., Mez, J. B., Bush, W. S., Engelman, C. D., Lu, Q., Fardo, D. W., Widaman, K. F., Buckley, R., Mormino, E. C., Kunkle, B. W., Naj, A. C., Clark, L. R., … Gifford, K. A. (2023). APOE4‐stratified GWAS across cognitive domains in non‐Hispanic white and non‐Hispanic black individuals. Alzheimer’s & Dementia, 19(S12). Portico. https://doi.org/10.1002/alz.080317
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Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2023). Higher Glycemic Index and Glycemic Load Diet Is Associated with Slower Disease Progression in Amyotrophic Lateral Sclerosis. Annals of Neurology, 95(2), 217–229. Portico. https://doi.org/10.1002/ana.26825
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Heuer, H. W., Clark, A. L., Brushaber, D., Forsberg, L. K., Miyagawa, T., Staffaroni, A. M., Huey, E. D., Boeve, B. F., Rosen, H. J., Boxer, A. L., & Investigators, A. (2023). Phenoconversion and disease progression observed in mutation carriers of familial Frontotemporal Lobar Degeneration in the ALLFTD Consortium. Alzheimer’s & Dementia, 19(S1). Portico. https://doi.org/10.1002/alz.068191
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Šušnjar, U., Škrabar, N., Brown, A.-L., Abbassi, Y., Phatnani, H., Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., … Buratti, E. (2022). Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03253-8
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Thakore, N. J., Lapin, B. R., Mitsumoto, H., & Pooled Resource Open‐Access ALS Clinical Trials Consortium. (2022). Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle & Nerve, 66(6), 702–708. Portico. https://doi.org/10.1002/mus.27724
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Cheung, K., & Mitsumoto, H. (2022). Evaluating Personalized (N-of-1) Trials in Rare Diseases: How Much Experimentation Is Enough? Harvard Data Science Review. https://doi.org/10.1162/99608f92.e11adff0
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Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., … Fradette, S. (2022). Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study. Neurotherapeutics, 19(4), 1248–1258. https://doi.org/10.1007/s13311-022-01237-4
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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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Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3
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Bajorek, L. P., Kiekhofer, R., Hall, M., Taylor, J., Lucente, D. E., Brushaber, D., Appleby, B., Coppolla, G., Bordelon, Y. M., Botha, H., Dickerson, B. C., Dickson, D. W., Domoto‐Reilly, K., Fagan, A. M., Fields, J. A., Fong, J. C., Foroud, T. M., Forsberg, L. K., … Galasko, D. R. (2021). Demographic and psychosocial factors associated with the decision to learn mutation status in familial frontotemporal dementia and the impact of disclosure on mood. Alzheimer’s & Dementia, 17(S7). Portico. https://doi.org/10.1002/alz.050692
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