Personal profile
Research interests
I am interested in the molecular and genetic basis of neuromuscular diseases. In particular age associated muscle degenerative disorders such as muscular dystrophy and myopathy.
Clinical interests
Mechanisms of weakness and atrophy related to neuromuscular disorders including muscular dystrophy, inflammatory myopathy (including inclusion body myositis), myopathy, motor neuron disease, ALS - Lou Gehrig's disease, statin induced myopathy, and elevated CPK.
Available to Mentor:
- PhD Students
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Collaborations and top research areas from the last five years
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Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy
Bhadra, A. K., Aggarwal, G., Jaysingh, A., Chen, D., Daw, J., Weihl, C. C. & True, H. L., Jan 2026, In: Journal of Biological Chemistry. 302, 1, 110945.Research output: Contribution to journal › Article › peer-review
Open Access -
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants
Record, C. J., Grider, T., Rebelo, A. P., Laurini, C., Skorupinska, M., Danzi, M. C., Poh, R., Tomaselli, P. J., Frezatti, R. S., Dominik, N., Grosz, B., Ellis, M., Kumar, K. R., Harms, M. B., Weihl, C. C., Marques Júnior, W., Claeys, K. G., Blake, J. C., Holt, J. K. L. & Weber, A. & 11 others, , Apr 2026, In: Journal of Neurology, Neurosurgery and Psychiatry. 97, 4, p. 283-292 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
Peck, A., Dadi, A., Yavarow, Z., Alfano, L. N., Anderson, D., Arkin, M. R., Chou, T. F., D'Ambrosio, E. S., Diaz-Manera, J., Dudley, J. P., Elder, A. G., Ghoshal, N., Hart, C. E., Hart, M. M., Huryn, D. M., Johnson, A. E., Jones, K. B., Kimonis, V., Kiskinis, E. & Lee, E. B. & 21 others, , Apr 2025, In: Neurobiology of Disease. 207, 106861.Research output: Contribution to journal › Review article › peer-review
Open Access4 Link opens in a new tab Scopus citations -
Advances in the classification and management of idiopathic inflammatory myopathies
Raaphorst, J., van der Kooi, A. J., Mecoli, C. A., Weihl, C. C., Tas, S. W., Schmidt, J. & de Visser, M., Sep 2025, In: The Lancet Neurology. 24, 9, p. 776-788 13 p.Research output: Contribution to journal › Review article › peer-review
Open Access8 Link opens in a new tab Scopus citations -
An ethanol-induced loss of the lipid droplet-associated segregase VCP/p97 leads to hepatic steatosis
Sen, S., Weller, S., Schulze, R. J., Ding, D., Casey, C. A., Weihl, C. & McNiven, M. A., Aug 4 2025, In: The Journal of cell biology. 224, 8Research output: Contribution to journal › Article › peer-review