Recent publications
- Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathyLi, C., Daw, J. A., Pittman, S. K., Maltby, C. J., Sakurai, H., Todd, P. K. & Weihl, C. C., Dec 2026, In: Acta Neuropathologica Communications. 14, 1, 90.Research output: Contribution to journal › Article › peer-review
- Etalanetug (E2814) in dominantly inherited Alzheimer’s disease: an open-label phase 1b/2 study to assess safety and target engagement in participants with mild to moderate cognitive impairmentDominantly Inherited Alzheimer Network (DIAN) & Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU), Dec 2026, In: Alzheimer's Research and Therapy. 18, 1, 87.Research output: Contribution to journal › Article › peer-review
- A pathogenic Tau mutation drives autophagy-lysosome dysfunction that limits Tau degradation in a model of frontotemporal dementiaMirfakhar, F. S., Marsh, J. A., Sato, C., Schache, K. J., Minaya, M. A., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H., Macauley, S. L. & Karch, C. M., Dec 2026, In: Nature communications. 17, 1, 2699.Research output: Contribution to journal › Article › peer-review
- Trajectories of plasma and CSF MTBR-tau243 and phosphorylated-tau species across the Alzheimer’s disease continuumCollij, L. E., Salvadó, G., Horie, K., Barthélemy, N. R., Betthauser, T. J., Strandberg, O., Smith, R., Palmqvist, S., Schindler, S. E., Ossenkoppele, R., Janelidze, S., Mattsson-Carlgren, N., Bateman, R. J. & Hansson, O., Dec 2026, In: Nature communications. 17, 1, 3400.Research output: Contribution to journal › Article › peer-review
- Dynamic causal modeling of effective connectivity generating a reduced auditory deviance detection in juvenile myoclonic epilepsyGjini, K., Vogel, J., Almane, D., Jones, J., Hermann, B., Nair, V., Prabhakaran, V. & Struck, A. F., Aug 2026, In: Epilepsy and Behavior. 181, 111074.Research output: Contribution to journal › Article › peer-review
- Myoclonin1 haploinsufficiency in motile ciliated cells partially recapitulates epileptic features of Efhc1-deficient mice in adult ageSuzuki, T., Tatsukawa, T., Sudo, G., Miyamoto, H., Zhang, Y., Holtzman, M. J., Itohara, S., Shimohata, A., Amano, K., Inoue, I., Mazaki, E. & Yamakawa, K., Jun 2026, In: Molecular and Cellular Neuroscience. 137, 104095.Research output: Contribution to journal › Article › peer-review
- Retraction notice to “Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying thePSEN1 H163Rmutation” [Stem Cell Res. 79 (2024) 103495]Dominantly Inherited Alzheimer Network DIAN, Jun 2026, In: Stem Cell Research. 93, 103956.Research output: Contribution to journal › Comment/debate
- Quantification of SARM1 NADase Activity in Human Peripheral Blood Mononuclear CellsDabill, L. F., Shen, I. R., Brazill, J. M., Neiner, A., Sasaki, Y. & Scheller, E. L., May 15 2026, In: FASEB Journal. 40, 9, e71846.Research output: Contribution to journal › Article › peer-review
- Countering bone loss and marrow fat expansion in the race to MarsMeslier, Q. A., Bouxsein, M. L. & Scheller, E. L., May 2026, In: Journal of Bone and Mineral Research. 41, 5, p. 463-464 2 p.Research output: Contribution to journal › Editorial
- NAD+‒circadian rhythm coupling in dementiaZhang, S. Q., Lee, J., Pan, J. P., Enger, R., Hrubos-Strøm, H., Musiek, E. S., Fang, E. F. & Le, W., May 2026, In: Alzheimer's and Dementia. 22, 5, e71360.Research output: Contribution to journal › Review article › peer-review
- Pre-analytical guidelines for blood and CSF Biomarkers 2025: Recommendations from the NACC ADRC Biofluid Biomarker Best Practices WorkgroupVan Meter, T. E., Wilson, E. N., Elahi, F., Rissman, R. A., Lago, A. L., Faber, K., Gauthreaux, K., Osorio, R., Perkins, M., Gray, N., Morris, J., Liu, A., Stockwell, H., Kukull, W., Wilson, R., Wingo, T. S., Kanaan, N. M., Russ, K., Wilcock, D. & Biber, S. A. & 2 others, Bekris, L. M. & Karikari, T. K., May 2026, In: Alzheimer's and Dementia. 22, 5, e71252.Research output: Contribution to journal › Review article › peer-review
- Dynamics of Spinal Fluid Immune Cell Alterations Following Cladribine Tablet Treatment in Multiple SclerosisSmirnov, R. A., Cantoni, C., Lee, K., Agnihotri, R. A., Axtell, R. C., Albright, A., Lancia, S., Paley, M. A., Hayward, B., Korich, J., Evans, E., Pardo, G., Obeidat, A. Z., Stuve, O., Bar-Or, A., Artyomov, M. N., Cross, A., Edelson, B. T. & Wu, G., May 1 2026, In: Neurology: Neuroimmunology and NeuroInflammation. 13, 3, p. e200565Research output: Contribution to journal › Article › peer-review
- Marrow-ablative chemotherapy and re-irradiation are associated with improved overall survival in patients with relapsed central nervous system nongerminomatous germ cell tumorsAbu-Arja, M. H., Rajabi, Z., McGlynn, M. C., Ghebrelul, R. T., Zobeck, M., Harasis, S., Arora, J., Zaghloul, M. S., Elhemaly, A., Bertrand, K., Gajjar, A., Ronsley, R., Cappellano, A. M., Dassi, N., Czogala, M., Graham, R. T., Knowles, T., Mueller, S., Fisher, M. J. & Finlay, J. L. & 3 others, Dhall, G., Nagabushan, S. & Abdelbaki, M. S., May 2026, In: Journal of Neuro-Oncology. 177, 3, 111.Research output: Contribution to journal › Article › peer-review
- Sleep Extension Improves Sleep Health but Not Insulin Sensitivity in People With Overweight or Obesity Who Maintain Habitual Short Sleep SchedulesBeals, J. W., Smith, G. I., Farabi, S. S., Patterson, B. W., Lucey, B. P., Broussard, J. L., Wright, K. P. & Klein, S., May 2026, In: Diabetes care. 49, 5, p. 740-745 6 p.Research output: Contribution to journal › Article › peer-review
- Low overlap of plasma and CSF protein quantitative trait loci affects protein discovery for neurological diseaseWestern, D., Yang, C., Timsina, J., Liu, M., Wang, C., Campbell, M., Kotzbauer, P., Perlmutter, J., Schindler, S., Morris, J., Holtzman, D., Alvarez, I., Pastor, P., Wyss-Coray, T., Marquie, M., Cano, A., Sung, Y. J., de Rojas, I., Ruiz, A. & Budde, J. & 4 others, Fernandez Hernandez, V., Tarawneh, R., Ibanez, L. & Cruchaga, C., Apr 29 2026, In: Science translational medicine. 18, 847, eadz2016.Research output: Contribution to journal › Article › peer-review
- Medicare Part D Formulary Coverage of Disease-Modifying Therapies for Multiple SclerosisLi, P., Klebanoff, M. J., Lin, J. K., Doshi, K. D., Chahin, S. & Doshi, J. A., Apr 24 2026, In: JAMA Health Forum. 7, 4, e260871.Research output: Contribution to journal › Article › peer-review
- Activation of the NLRP3 inflammasome in osteoclasts is suppressed by a Tmem178-dependent mechanism that restricts Ca2+ influxKaur, K., Alippe, Y., Wang, C., Semenkovich, N. P., Hassan, M. G., Bhagat, S., Khanna, K., Li, Y., Pokhrel, N., Peterson, T., Scheller, E. L., Veis, D. J., Abu-Amer, Y., Faccio, R. & Mbalaviele, G., Apr 21 2026, In: Science signaling. 19, 934, eaea2753.Research output: Contribution to journal › Article › peer-review
- Computational rheometry for modeling viscoelasticity and mechanical responses of biomolecular condensatesZhang, R., Mitra, G., Ghosh, S. & Pappu, R. V., Apr 21 2026, In: Biophysical Journal. 125, 8, p. 1979-1995 17 p.Research output: Contribution to journal › Article › peer-review
- Dysregulated lactate metabolism synergizes with ALS genetic risk factors to accelerate motor declineDysregulated lactate metabolism synergizes with ALS genetic risk factors to accelerate motor declineTendulkar, S., Wu, T., Strickland, A., Hackett, A. R., Sato-Yamada, Y., Mao, X., Sasaki, Y., Milbrandt, J., Bloom, A. J. & DiAntonio, A., Apr 2026, In: PloS one. 21, 4 April, e0347135.Research output: Contribution to journal › Article › peer-review
- Kinetic Modeling of a Novel Putative Sphingosine-1-Phosphate Receptor 1 (S1PR1) Radiotracer [18F]TZ82112 in Nonhuman PrimatesNai, Y. H., Qiu, L., Jiang, H., Chen, H., Snyder, A., Lee, J., Wong, D. F., Huang, T., Gropler, R., Benzinger, T. L. S., Perlmutter, J. S. & Tu, Z., Apr 2026, In: Journal of Neurochemistry. 170, 4, e70447.Research output: Contribution to journal › Article › peer-review