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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Among authors: pestronk a. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE. Forman MS, et al. Among authors: pestronk a. J Neuropathol Exp Neurol. 2006 Jun;65(6):571-81. doi: 10.1097/00005072-200606000-00005. J Neuropathol Exp Neurol. 2006. PMID: 16783167
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
., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M.P. and Kimonis, V.E. (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. p97/VCP is …
., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M.P. and Kimonis, V.E. (2004) Inclusion 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.
314 results