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Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.
Weihl CC, Miller SE, Hanson PI, Pestronk A. Weihl CC, et al. Among authors: pestronk a. Hum Mol Genet. 2007 Apr 15;16(8):919-28. doi: 10.1093/hmg/ddm037. Epub 2007 Feb 28. Hum Mol Genet. 2007. PMID: 17329348
Mutations in p97/VCP cause the autosomal-dominant, inherited syndrome inclusion body myopathy (IBM) associated with Paget's disease of the bone and frontotemporal dementia (IBMPFD) (Watts, G.D., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A …
Mutations in p97/VCP cause the autosomal-dominant, inherited syndrome inclusion body myopathy (IBM) associated with Paget's disease of the b …
Mitochondrial pathology in immune and inflammatory myopathies.
Varadhachary AS, Weihl CC, Pestronk A. Varadhachary AS, et al. Among authors: pestronk a. Curr Opin Rheumatol. 2010 Nov;22(6):651-7. doi: 10.1097/BOR.0b013e32833f108a. Curr Opin Rheumatol. 2010. PMID: 20827203 Review.
Novel GNE mutations in two phenotypically distinct HIBM2 patients.
Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M. Weihl CC, et al. Among authors: pestronk a. Neuromuscul Disord. 2011 Feb;21(2):102-5. doi: 10.1016/j.nmd.2010.11.002. Epub 2010 Dec 4. Neuromuscul Disord. 2011. PMID: 21131200 Free PMC article.
317 results