Research output per year
Research output per year
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/MSTP Students
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands
the 272nd ENMC workshop participants, Apr 2024, In: Neuromuscular Disorders. 37, p. 36-51 16 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons
Klickstein, J. A., Johnson, M. A., Antonoudiou, P., Maguire, J., Paulo, J. A., Gygi, S. P., Weihl, C. & Raman, M., Mar 12 2024, In: Stem Cell Reports. 19, 3, p. 366-382 17 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
Doody, 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
Open Access -
VCP Inhibition Augments NLRP3 Inflammasome Activation
Sharma, A., Dhavale, D. D., Kotzbauer, P. T. & Weihl, C. C., 2024, (Accepted/In press) In: Inflammation.Research output: Contribution to journal › Article › peer-review
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-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 others, , Nov 2 2023, In: American journal of human genetics. 110, 11, p. 1959-1975 17 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations