Explore our research fingerprint
Jump over to the our research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapyPotter, R. A., Moeller, I. H., Khan, S., Haegel, H., Hollenstein, A., Steiner, G., Wandel, C., Murphy, A. P., Asher, D. R., Palatinsky, E., Griffin, D. A., Mason, S., Iannaccone, S. T., Zaidman, C. M. & Rodino-Klapac, L. R., Dec 2025, In: Scientific reports. 15, 1, 4.Research output: Contribution to journal › Article › peer-review
- Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium studythe GRASP-LGMD Consortium, Feb 2025, In: Annals of Clinical and Translational Neurology. 12, 2, p. 332-344 13 p.Research output: Contribution to journal › Article › peer-review
- Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real-world” settingTofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real-world” settingSmith, S. E., McCoy-Gross, K., Malcolm, A., Oranski, J., Markway, J. W., Miller, T. M. & Bucelli, R. C., Feb 2025, In: Annals of Clinical and Translational Neurology. 12, 2, p. 311-319 9 p.Research output: Contribution to journal › Article › peer-review
- Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients with Spinal Muscular Atrophy: The Phase 3b SMART StudyMcMillan, H. J., Baranello, G., Farrar, M. A., Zaidman, C. M., Moreno, T., De Waele, L., Jong, Y. J., Laugel, V., Quijano-Roy, S., Mercuri, E., Chien, Y. H., Straub, V., Darras, B. T., Seibert, J., Bernardo Escudero, R., Alecu, I., Freischläger, F. & Muntoni, F., Dec 30 2024, In: Neurology. 104, 2, 10.1212/WNL.0000000000210268.Research output: Contribution to journal › Article › peer-review
- Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin TherapyO'Brien, M. A., Culican, S., Shinawi, M. S. & Zaidman, C. M., Dec 10 2024, In: Neurology. 103, 11, p. e209969Research output: Contribution to journal › Article › peer-review
- Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y)Opie-Martin, S., Iacoangeli, A., Topp, S. D., Abel, O., Mayl, K., Mehta, P. R., Shatunov, A., Fogh, I., Bowles, H., Limbachiya, N., Spargo, T. P., Al-Khleifat, A., Williams, K. L., Jockel-Balsarotti, J., Bali, T., Self, W., Henden, L., Nicholson, G. A., Ticozzi, N. & McKenna-Yasek, D. & 29 others, Tang, L., Shaw, P. J., Chio, A., Ludolph, A., Weishaupt, J. H., Landers, J. E., Glass, J. D., Mora, J. S., Robberecht, W., Damme, P. V., McLaughlin, R., […]
- A framework for sharing of clinical and genetic data for precision medicine applicationsNYGC ALS Consortium, Dec 2024, In: Nature medicine. 30, 12, p. 3578-3589 12 p., 134.Research output: Contribution to journal › Article › peer-review
- Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosisThe ALL ALS Consortium, Dec 2024, In: Muscle and Nerve. 70, 6, p. 1140-1150 11 p.Research output: Contribution to journal › Review article › peer-review
- Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort studyGoedeker, N. L., Rogers, A., Fisher, M., Arya, K., Brandsema, J. F., Farah, H., Farrar, M. A., Felker, M. V., Gibbons, M., Hamid, O. A., Harmelink, M., Herbert, K., Kichula, E., King, K., Lakhotia, A., Lee, B. H., Kuntz, N. L., Parsons, J., Rehborg, R. & Veerapaniyan, A. & 1 others, Zaidman, C. M., Dec 2024, In: Muscle and Nerve. 70, 6, p. 1247-1256 10 p.Research output: Contribution to journal › Article › peer-review
- Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLSThe New York Genome Center ALS Sequencing Consortium, Scottish Genomes Partnership, ALS COSMOS Study Group, PLS COSMOS Study Group & GTAC Investigators, Dec 2024, In: BMC genomics. 25, 1, 651.Research output: Contribution to journal › Article › peer-review
- 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
- Genotype‒phenotype correlation in recessive DNAJB4 myopathyInoue, M., Jayaraman, D., Bengoechea, R., Bhadra, A., Genetti, C. A., Aldeeri, A. A., Turan, B., Pacheco-Orozco, R. A., Al-Maawali, A., Al Hashmi, N., Zamani, A. G., Göktaş, E., Pekcan, S., Çağlar, H. T., True, H., Beggs, A. H. & Weihl, C. C., Dec 2024, In: Acta Neuropathologica Communications. 12, 1, 171.Research output: Contribution to journal › Article › peer-review
- Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controlsthe Answer ALS Consortium, Dec 2024, In: Nature communications. 15, 1, 3606.Research output: Contribution to journal › Article › peer-review
- Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe diseaseon behalf of the PROPEL Study Group, Dec 2024, In: Journal of Patient-Reported Outcomes. 8, 1, 132.Research output: Contribution to journal › Article › peer-review
- Seeding-competent TDP-43 persists in human patient and mouse muscleLynch, E. M., Pittman, S., Daw, J., Ikenaga, C., Chen, S., Dhavale, D. D., Jackrel, M. E., Ayala, Y. M., Kotzbauer, P., Ly, C. V., Pestronk, A., Lloyd, T. E. & Weihl, C. C., Nov 27 2024, In: Science translational medicine. 16, 775, eadp5730.Research output: Contribution to journal › Article › peer-review
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approachesFindlay, A. R., Oct 2024, In: DMM Disease Models and Mechanisms. 17, 10, dmm050720.Research output: Contribution to journal › Review article › peer-review
- VCP Inhibition Augments NLRP3 Inflammasome ActivationSharma, A., Dhavale, D. D., Kotzbauer, P. T. & Weihl, C. C., Oct 2024, In: Inflammation. 47, 5, p. 1868-1883 16 p.Research output: Contribution to journal › Article › peer-review
- The expanding application of antisense oligonucleotides to neurodegenerative diseasesSumner, C. J. & Miller, T. M., Oct 2024, In: Journal of Clinical Investigation. 134, 19, e186116.Research output: Contribution to journal › Review article › peer-review
- Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1Robinson, S. E., Findlay, A. R., Li, S., Wang, F., Schiava, M., Daw, J., Diaz-Manera, J., Chou, T. F. & Weihl, C., Sep 12 2024, In: Neurology: Genetics. 10, 5, e200191.Research output: Contribution to journal › Article › peer-review
- Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathiesPutko, B., Pestronk, A., Van Stavern, G. P., Phan, C. L., Beecher, G. & Liewluck, T., Sep 2024, In: Neuromuscular Disorders. 42, p. 1-4 4 p.Research output: Contribution to journal › Article › peer-review