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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.
Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR. Rademakers R, et al. Among authors: cashman n. Muscle Nerve. 2010 Aug;42(2):170-6. doi: 10.1002/mus.21665. Muscle Nerve. 2010. PMID: 20544928 Free PMC article.
Intermolecular transmission of superoxide dismutase 1 misfolding in living cells.
Grad LI, Guest WC, Yanai A, Pokrishevsky E, O'Neill MA, Gibbs E, Semenchenko V, Yousefi M, Wishart DS, Plotkin SS, Cashman NR. Grad LI, et al. Proc Natl Acad Sci U S A. 2011 Sep 27;108(39):16398-403. doi: 10.1073/pnas.1102645108. Epub 2011 Sep 19. Proc Natl Acad Sci U S A. 2011. PMID: 21930926 Free PMC article.
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.
Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR. Stewart H, et al. Among authors: cashman n. Acta Neuropathol. 2012 Mar;123(3):409-17. doi: 10.1007/s00401-011-0937-5. Epub 2012 Jan 7. Acta Neuropathol. 2012. PMID: 22228244 Free PMC article.
Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms.
Grad LI, Yerbury JJ, Turner BJ, Guest WC, Pokrishevsky E, O'Neill MA, Yanai A, Silverman JM, Zeineddine R, Corcoran L, Kumita JR, Luheshi LM, Yousefi M, Coleman BM, Hill AF, Plotkin SS, Mackenzie IR, Cashman NR. Grad LI, et al. Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3620-5. doi: 10.1073/pnas.1312245111. Epub 2014 Feb 18. Proc Natl Acad Sci U S A. 2014. PMID: 24550511 Free PMC article.
238 results