Mitsumoto, H., Cheung, K., Oskarsson, B., Jang, G. E., Andrews, H. F., Johnson, S., Shah, J. S., Fernandes, J. A., Andrews, J. A., Rao, M., & McElhiney, M. (2025). Placebo‐Controlled, Randomized Double‐Blind N‐Of‐1 Trial to Study Safety and Potential Efficacy of TJ‐68 for Improving Muscle Cramps in Patients With Amyotrophic Lateral Sclerosis: A Pilot Study. Muscle & Nerve. Portico. https://doi.org/10.1002/mus.28459

Liu, X., de Boer, S. C. M., Cortez, K., Poos, J. M., Illán‐Gala, I., Heuer, H., Forsberg, L. K., Casaletto, K., Memel, M., Appleby, B. S., Barmada, S., Bozoki, A., Clark, D., Cobigo, Y., Darby, R., Dickerson, B. C., Domoto‐Reilly, K., Galasko, D. R., … Geschwind, D. H. (2025). Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia. Alzheimer’s & Dementia, 21(4). Portico. https://doi.org/10.1002/alz.14608

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

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

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

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

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

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

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

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

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

Eisen, A., Vucic, S., & Mitsumoto, H. (2024). History of ALS and the competing theories on pathogenesis: IFCN handbook chapter. Clinical Neurophysiology Practice, 9, 1–12. https://doi.org/10.1016/j.cnp.2023.11.004

Elyaman, W. (2023). CNS Immune Surveillance in Alzheimer’s Disease. Alzheimer’s & Dementia, 19(S13). Portico. https://doi.org/10.1002/alz.070853

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

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

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

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

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

Barbuto, S., Kuo, S.-H., Winterbottom, L., Lee, S., Stern, Y., O’Dell, M., & Stein, J. (2022). Home Aerobic Training for Cerebellar Degenerative Diseases: a Randomized Controlled Trial. The Cerebellum, 22(2), 272–281. https://doi.org/10.1007/s12311-022-01394-4

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

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

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

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

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

Barker, M. S., Gottesman, R. T., Manoochehri, M., Chapman, S., Appleby, B. S., Brushaber, D., Devick, K. L., Dickerson, B. C., Domoto-Reilly, K., Fields, J. A., Forsberg, L. K., Galasko, D. R., Ghoshal, N., Goldman, J., Graff-Radford, N. R., Grossman, M., Heuer, H. W., Hsiung, G.-Y., Knopman, D. S., … Weintraub, S. (2022). Proposed research criteria for prodromal behavioural variant frontotemporal dementia. Brain, 145(3), 1079–1097. https://doi.org/10.1093/brain/awab365

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

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

Comfort, N., Strait, M., Saglimbeni, B., Saxena, R., Obis, T., Shneider, N. A., Kioumourtzoglou, M. A., & Re, D. B. (2021). Central Nervous System (CNS)-Derived Extracellular Vesicles (EVs) as Novel Biomarkers for Environmental Exposure and Disease Progression in ALS. ISEE Conference Abstracts, 2021(1). https://doi.org/10.1289/isee.2021.o-to-102