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Jump over to the our research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD studyDoody, A., Alfano, L., Diaz-Manera, J., Lowes, L., Mozaffar, T., Mathews, K. D., Weihl, C. C., Wicklund, M., Hung, M., Statland, J. & Johnson, N. E., Dec 2024, In: BMC Neurology. 24, 1, 96.Research output: Contribution to journal › Article › peer-review
- Augustus Waller's foresight realized: SARM1 in peripheral neuropathiesGeisler, S., Aug 2024, In: Current Opinion in Neurobiology. 87, 102884.Research output: Contribution to journal › Review article › peer-review
- Prevalence of anti-myelin oligodendrocyte glycoprotein antibodies across neuroinflammatory and neurodegenerative diseasesTrivedi, R. R., Archambault, A. S., Pavlak, C., Gastaldi, M., Cantoni, C., Ghezzi, L., Cross, A. H., Miller, T. M. & Wu, G., Jun 15 2024, In: Journal of the Neurological Sciences. 461, 123041.Research output: Contribution to journal › Article › peer-review
- Correction to: A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD (Nature Medicine, (2024), 30, 2, (382-393), 10.1038/s41591-023-02788-5)Irwin, K. E., Jasin, P., Braunstein, K. E., Sinha, I. R., Garret, M. A., Bowden, K. D., Chang, K., Troncoso, J. C., Moghekar, A., Oh, E. S., Raitcheva, D., Bartlett, D., Miller, T., Berry, J. D., Traynor, B. J., Ling, J. P. & Wong, P. C., May 2024, In: Nature medicine. 30, 5, p. 1504 1 p.Research output: Contribution to journal › Comment/debate
- Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trialTawil, R., Wagner, K. R., Hamel, J. I., Leung, D. G., Statland, J. M., Wang, L. H., Genge, A., Sacconi, S., Lochmüller, H., Reyes-Leiva, D., Diaz-Manera, J., Alonso-Perez, J., Muelas, N., Vilchez, J. J., Pestronk, A., Gibson, S., Goyal, N. A., Hayward, L. J., Johnson, N., LoRusso, S., & 19 othersFreimer, M., Shieh, P. B., Subramony, S. H., van Engelen, B., Kools, J., Leinhard, O. D., Widholm, P., Morabito, C., Moxham, C. M., Cadavid, D., Mellion, M. L., Odueyungbo, A., Tracewell, W. G., Accorsi, […]
- Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients with Duchenne Muscular DystrophyZaidman, C. M., Goedeker, N. L., Aqul, A. A., Butterfield, R. J., Connolly, A. M., Crystal, R. G., Godwin, K. E., Hor, K. N., Mathews, K. D., Proud, C. M., Kula Smyth, E., Veerapandiyan, A., Watkins, P. B. & Mendell, J. R., Apr 30 2024, In: Journal of neuromuscular diseases. 11, 3, p. 687-699 13 p.Research output: Contribution to journal › Article › peer-review
- Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular DystrophyMendell, J. R., Proud, C., Zaidman, C. M., Mason, S., Darton, E., Wang, S., Wandel, C., Murphy, A. P., Mercuri, E., Muntoni, F. & McDonald, C. M., Apr 2024, In: Pediatric Neurology. 153, p. 11-18 8 p.Research output: Contribution to journal › Article › peer-review
- Translating the ALS Genetic Revolution into Therapies: A ReviewMeadows, C., Rau, N. A., Faridi, W. & Ly, C. V., Mar 2024, In: Current Treatment Options in Neurology. 26, 3, p. 35-49 15 p.Research output: Contribution to journal › Review article › peer-review
- Plasma proteomic analysis on neuropathic pain in idiopathic peripheral neuropathy patientsvan Doormaal, P. T. C., Thomas, S., Ajroud-Driss, S., Cole, R. N., DeVine, L. R., Dimachkie, M. M., Geisler, S., Freeman, R., Simpson, D. M., Singleton, J. R., Smith, A. G., Stino, A. & Höke, A., Mar 2024, In: Journal of the Peripheral Nervous System. 29, 1, p. 88-96 9 p.Research output: Contribution to journal › Article › peer-review
- A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTDIrwin, K. E., Jasin, P., Braunstein, K. E., Sinha, I. R., Garret, M. A., Bowden, K. D., Chang, K., Troncoso, J. C., Moghekar, A., Oh, E. S., Raitcheva, D., Bartlett, D., Miller, T., Berry, J. D., Traynor, B. J., Ling, J. P. & Wong, P. C., Feb 2024, In: Nature medicine. 30, 2, p. 382-393 12 p.Research output: Contribution to journal › Article › peer-review
- VCP Inhibition Augments NLRP3 Inflammasome ActivationSharma, A., Dhavale, D. D., Kotzbauer, P. T. & Weihl, C. C., 2024, (Accepted/In press) In: Inflammation.Research output: Contribution to journal › Article › peer-review
- Patterns of Clinical Progression among Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic ReviewCheung, A., Audhya, I. F., Szabo, S. M., Friesen, M., Weihl, C. C. & Gooch, K. L., Dec 1 2023, In: Journal of clinical neuromuscular disease. 25, 2, p. 65-80 16 p.Research output: Contribution to journal › Review article › peer-review
- An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPMah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S., Blatterer, J., & 15 othersSchreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T. F., Weihl, C. C. & Shinawi, M. S., Nov 2 2023, In: American […]
- Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 miceIyer, K., Schoch, K. M., Verbeck, A., Galasso, G., Chen, H., Smith, S., Oldenborg, A., Miller, T. M., Karch, C. M. & Bonni, A., Nov 2023, In: PloS one. 18, 11 November, e0294731.Research output: Contribution to journal › Article › peer-review
- Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to
- Lumbar punctures are safe in patients with ALS and have a risk profile similar to that in the non-ALS populationKreple, C. J., Gajagowni, S., Jockel-Balsaratti, J., Bucelli, R. C. & Miller, T. M., Nov 2023, In: Muscle and Nerve. 68, 5, p. 771-775 5 p.Research output: Contribution to journal › Article › peer-review
- Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsRebelo, A. P., Tomaselli, P. J., Medina, J., Wang, Y., Dohrn, M. F., Nyvltova, E., Danzi, M. C., Garrett, M., Smith, S. E., Pestronk, A., Li, C., Ruiz, A., Jacobs, E., Feely, S. M. E., França, M. C., Gomes, M. V., Santos, D. F., Kumar, S., Lombard, D. B., Saporta, M., & 6 othersHekimi, S., Barrientos, A., Weihl, C., Shy, M. E., Marques, W. & Zuchner, S., Oct 1 2023, In: Brain. 146, 10, p. 4191-4199 9 p.Research output: Contribution to journal › Article › peer-review
- Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell ModelsKnox, R. N., Eidahl, J. O., Wallace, L. M., Choudury, S. G., Rashnonejad, A., Daman, K., Guggenbiller, M. J., Saad, N. Y., Hoover, M. E., Zhang, L., Branson, O. E., Emerson, C. P., Freitas, M. A. & Harper, S. Q., Aug 2023, In: Annals of neurology. 94, 2, p. 398-413 16 p.Research output: Contribution to journal › Article › peer-review
- Exploring hand and upper limb function in patients with inclusion body myositis (IBM)Hunn, S., Alfano, L., Seiffert, M. & Weihl, C. C., Aug 2023, In: Neuromuscular Disorders. 33, 8, p. 643-650 8 p.Research output: Contribution to journal › Article › peer-review
- Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practiceJones, S. M., Lazar, E. B., Porter, A. L., Prusinski, C. C., Brier, M. R., Bucelli, R. C. & Day, G. S., Jul 2023, In: European Journal of Neurology. 30, 7, p. 1854-1860 7 p.Research output: Contribution to journal › Article › peer-review