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Page 1
GFAP mutations in Alexander disease.
Li R, Messing A, Goldman JE, Brenner M. Li R, et al. Among authors: brenner m. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. doi: 10.1016/s0736-5748(02)00019-9. Int J Dev Neurosci. 2002. PMID: 12175861 Review.
GFAP and its role in Alexander disease.
Quinlan RA, Brenner M, Goldman JE, Messing A. Quinlan RA, et al. Among authors: brenner m. Exp Cell Res. 2007 Jun 10;313(10):2077-87. doi: 10.1016/j.yexcr.2007.04.004. Epub 2007 Apr 6. Exp Cell Res. 2007. PMID: 17498694 Free PMC article. Review.
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M. Li R, et al. Among authors: brenner m. Ann Neurol. 2005 Mar;57(3):310-26. doi: 10.1002/ana.20406. Ann Neurol. 2005. PMID: 15732097
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Among authors: brenner m. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765
The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA. Der Perng M, et al. Among authors: brenner m. Am J Hum Genet. 2006 Aug;79(2):197-213. doi: 10.1086/504411. Epub 2006 Jun 12. Am J Hum Genet. 2006. PMID: 16826512 Free PMC article.
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M. Flint D, et al. Among authors: brenner m. Hum Mutat. 2012 Jul;33(7):1141-8. doi: 10.1002/humu.22094. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22488673 Free PMC article.
Alexander disease: new insights from genetics.
Messing A, Goldman JE, Johnson AB, Brenner M. Messing A, et al. Among authors: brenner m. J Neuropathol Exp Neurol. 2001 Jun;60(6):563-73. doi: 10.1093/jnen/60.6.563. J Neuropathol Exp Neurol. 2001. PMID: 11398833 Review.
Alexander disease.
Messing A, Brenner M, Feany MB, Nedergaard M, Goldman JE. Messing A, et al. Among authors: brenner m. J Neurosci. 2012 Apr 11;32(15):5017-23. doi: 10.1523/JNEUROSCI.5384-11.2012. J Neurosci. 2012. PMID: 22496548 Free PMC article. No abstract available.
2,267 results